Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.72562470G>A , CM000676.2:g.72562470G>A	GRCh38
NC_000014.8:g.73029178G>A , CM000676.1:g.73029178G>A	GRCh37
NC_000014.7:g.72098931G>A	NCBI36
NG_029236.1:g.635362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553525.6:c.*3G>A MANE Select	ENSP00000451030.1:n.*3G>A
ENST00000644463.1:c.175G>A	ENSP00000496764.1:p.Val59Ile
ENST00000343854.10:c.*3G>A	ENSP00000341199.7:n.*3G>A
ENST00000402788.6:c.*3G>A	ENSP00000383953.3:n.*3G>A
ENST00000553525.5:c.*3G>A	ENSP00000451030.1:n.*3G>A
ENST00000553530.5:c.*3G>A	ENSP00000452331.1:n.*3G>A
ENST00000554300.1:n.87G>A
ENST00000554474.5:c.*141G>A	ENSP00000450858.1:n.*141G>A
ENST00000554782.1:c.1006-245G>A	ENSP00000451912.1:n.1006-245G>A
ENST00000556437.5:c.*3G>A	ENSP00000451855.1:n.*3G>A
ENST00000622468.4:c.*3G>A	ENSP00000478186.1:n.*3G>A
NM_001204416.1:c.*3G>A	NP_001191345.1:n.*3G>A
NM_001204417.1:c.1423-245G>A	NP_001191346.1:n.1423-245G>A
NM_001204418.1:c.1369-245G>A	NP_001191347.1:n.1369-245G>A
NM_001204419.1:c.*3G>A	NP_001191348.1:n.*3G>A
NM_001204420.1:c.*3G>A	NP_001191349.1:n.*3G>A
NM_001204421.1:c.1312-245G>A	NP_001191350.1:n.1312-245G>A
NM_001204422.1:c.1258-245G>A	NP_001191351.1:n.1258-245G>A
NM_001204423.1:c.*3G>A	NP_001191352.1:n.*3G>A
NM_001204424.1:c.*3G>A	NP_001191353.1:n.*3G>A
NM_004296.5:c.*3G>A	NP_004287.3:n.*3G>A
XM_005268236.1:c.*3G>A	XP_005268293.1:n.*3G>A
XM_011537388.1:c.1516G>A	XP_011535690.1:p.Val506Ile
XM_011537389.1:c.1627G>A	XP_011535691.1:p.Val543Ile
XM_011537390.1:c.1405G>A	XP_011535692.1:p.Val469Ile
XM_011537391.1:c.1516G>A	XP_011535693.1:p.Val506Ile
XM_011537392.1:c.*57G>A	XP_011535694.1:n.*57G>A
XM_011537393.1:c.1447G>A	XP_011535695.1:p.Val483Ile
XM_011537394.1:c.*17G>A	XP_011535696.1:n.*17G>A
XM_011537395.1:c.*73G>A	XP_011535697.1:n.*73G>A
XM_011537397.1:c.1210G>A	XP_011535699.1:p.Val404Ile
XM_011537398.1:c.1210G>A	XP_011535700.1:p.Val404Ile
XM_011537399.1:c.*3G>A	XP_011535701.1:n.*3G>A
XM_011537401.1:c.*3G>A	XP_011535703.1:n.*3G>A
XM_011537403.1:c.*74G>A	XP_011535705.1:n.*74G>A
XM_011537407.1:c.985G>A	XP_011535709.1:p.Val329Ile
XR_943565.1:n.1724G>A
NM_001204416.2:c.*3G>A	NP_001191345.1:n.*3G>A
NM_001204417.2:c.1423-245G>A	NP_001191346.1:n.1423-245G>A
NM_001204418.2:c.1369-245G>A	NP_001191347.1:n.1369-245G>A
NM_001204419.2:c.*3G>A	NP_001191348.1:n.*3G>A
NM_001204420.2:c.*3G>A	NP_001191349.1:n.*3G>A
NM_001204421.2:c.1312-245G>A	NP_001191350.1:n.1312-245G>A
NM_001204422.2:c.1258-245G>A	NP_001191351.1:n.1258-245G>A
NM_004296.6:c.*3G>A	NP_004287.3:n.*3G>A
NR_135235.1:n.1824G>A
XM_011537393.2:c.1447G>A	XP_011535695.1:p.Val483Ile
XM_011537407.2:c.985G>A	XP_011535709.1:p.Val329Ile
XM_017021819.1:c.1543G>A	XP_016877308.1:p.Val515Ile
XM_017021820.2:c.1516G>A	XP_016877309.1:p.Val506Ile
XM_017021822.2:c.1423-18898G>A	XP_016877311.1:n.1423-18898G>A
XM_017021824.1:c.1432G>A	XP_016877313.1:p.Val478Ile
XM_017021825.2:c.1422+22376G>A	XP_016877314.1:n.1422+22376G>A
XM_017021827.2:c.1423-16670G>A	XP_016877316.1:n.1423-16670G>A
XM_017021829.1:c.*74G>A	XP_016877318.1:n.*74G>A
XM_017021834.1:c.1006-245G>A	XP_016877323.1:n.1006-245G>A
XM_024449759.1:c.1627G>A	XP_024305527.1:p.Val543Ile
XM_024449760.1:c.1627G>A	XP_024305528.1:p.Val543Ile
XM_024449761.1:c.1627G>A	XP_024305529.1:p.Val543Ile
XM_024449762.1:c.1543G>A	XP_024305530.1:p.Val515Ile
XM_024449763.1:c.1420G>A	XP_024305531.1:p.Val474Ile
XM_024449764.1:c.1420G>A	XP_024305532.1:p.Val474Ile
XM_024449765.1:c.1543G>A	XP_024305533.1:p.Val515Ile
XM_024449766.1:c.1543G>A	XP_024305534.1:p.Val515Ile
XM_024449767.1:c.*68G>A	XP_024305535.1:n.*68G>A
XM_024449768.1:c.1432G>A	XP_024305536.1:p.Val478Ile
XM_024449769.1:c.*3G>A	XP_024305537.1:n.*3G>A
XM_024449770.1:c.1423-245G>A	XP_024305538.1:n.1423-245G>A
XM_024449771.1:c.*3G>A	XP_024305539.1:n.*3G>A
XM_024449772.1:c.*3G>A	XP_024305540.1:n.*3G>A
XM_024449773.1:c.*3G>A	XP_024305541.1:n.*3G>A
XM_024449774.1:c.1369-245G>A	XP_024305542.1:n.1369-245G>A
XM_024449775.1:c.*74G>A	XP_024305543.1:n.*74G>A
XM_024449776.1:c.*3G>A	XP_024305544.1:n.*3G>A
XM_024449777.1:c.*3G>A	XP_024305545.1:n.*3G>A
XM_024449778.1:c.*3G>A	XP_024305546.1:n.*3G>A
XR_001750613.2:n.2062G>A
XR_002957573.1:n.1945G>A
NM_001204424.2:c.*3G>A MANE Select	NP_001191353.1:n.*3G>A
NM_001204416.3:c.*3G>A	NP_001191345.1:n.*3G>A
NM_001204417.3:c.1423-245G>A	NP_001191346.1:n.1423-245G>A
NM_001204418.3:c.1369-245G>A	NP_001191347.1:n.1369-245G>A
NM_001204419.3:c.*3G>A	NP_001191348.1:n.*3G>A
NM_001204420.3:c.*3G>A	NP_001191349.1:n.*3G>A
NM_001204421.3:c.1312-245G>A	NP_001191350.1:n.1312-245G>A
NM_001204422.3:c.1258-245G>A	NP_001191351.1:n.1258-245G>A
NM_001204423.2:c.*3G>A	NP_001191352.1:n.*3G>A
NM_001370270.1:c.1543G>A	NP_001357199.1:p.Val515Ile
NM_001370271.1:c.1543G>A	NP_001357200.1:p.Val515Ile
NM_001370272.1:c.1543G>A	NP_001357201.1:p.Val515Ile
NM_001370273.1:c.1543G>A	NP_001357202.1:p.Val515Ile
NM_001370274.1:c.1543G>A	NP_001357203.1:p.Val515Ile
NM_001370275.1:c.1543G>A	NP_001357204.1:p.Val515Ile
NM_001370276.1:c.1543G>A	NP_001357205.1:p.Val515Ile
NM_001370277.1:c.*17G>A	NP_001357206.1:n.*17G>A
NM_001370278.1:c.1627G>A	NP_001357207.1:p.Val543Ile
NM_001370279.1:c.1534G>A	NP_001357208.1:p.Val512Ile
NM_001370280.1:c.1501G>A	NP_001357209.1:p.Val501Ile
NM_001370281.1:c.1574-245G>A	NP_001357210.1:n.1574-245G>A
NM_001370282.1:c.*68G>A	NP_001357211.1:n.*68G>A
NM_001370283.1:c.1432G>A	NP_001357212.1:p.Val478Ile
NM_001370284.1:c.*3G>A	NP_001357213.1:n.*3G>A
NM_001370286.1:c.1333G>A	NP_001357215.1:p.Val445Ile
NM_001370287.1:c.*3G>A	NP_001357216.1:n.*3G>A
NM_001370288.1:c.*3G>A	NP_001357217.1:n.*3G>A
NM_001370289.1:c.*3G>A	NP_001357218.1:n.*3G>A
NM_001370290.1:c.*74G>A	NP_001357219.1:n.*74G>A
NM_001370291.1:c.*74G>A	NP_001357220.1:n.*74G>A
NM_001370292.1:c.*3G>A	NP_001357221.1:n.*3G>A
NM_001370293.1:c.*3G>A	NP_001357222.1:n.*3G>A
NM_001370294.1:c.*3G>A	NP_001357223.1:n.*3G>A
NM_004296.7:c.*3G>A	NP_004287.3:n.*3G>A
NR_135235.2:n.1640G>A

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

Transcript Alleles