Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224489G>A , CM000679.2:g.7224489G>A	GRCh38
NC_000017.10:g.7127808G>A , CM000679.1:g.7127808G>A	GRCh37
NC_000017.9:g.7068532G>A	NCBI36
NG_007975.1:g.9656G>A
NG_008391.2:g.562C>T
NG_033038.1:g.15056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1615G>A MANE Select	ENSP00000349297.5:p.Ala539Thr
ENST00000322910.9:c.*1570G>A	ENSP00000325395.5:n.*1570G>A
ENST00000350303.9:c.1549G>A	ENSP00000344152.5:p.Ala517Thr
ENST00000356839.9:c.1615G>A	ENSP00000349297.5:p.Ala539Thr
ENST00000542255.6:c.473G>A
ENST00000543245.6:c.1684G>A	ENSP00000438689.2:p.Ala562Thr
ENST00000578319.5:n.196G>A
ENST00000578711.1:n.985G>A
ENST00000578809.5:n.187G>A
ENST00000579391.1:n.219G>A
ENST00000579425.5:n.731G>A
ENST00000579546.1:c.350G>A
ENST00000579894.5:n.402G>A
ENST00000582450.1:n.123G>A
ENST00000583074.5:n.236G>A
ENST00000583848.5:c.1G>A	ENSP00000466487.1:p.Ala1Thr
ENST00000583850.5:n.386G>A
ENST00000583858.5:c.546G>A
ENST00000585203.6:n.806G>A
NM_000018.3:c.1615G>A	NP_000009.1:p.Ala539Thr
NM_001033859.2:c.1549G>A	NP_001029031.1:p.Ala517Thr
NM_001270447.1:c.1684G>A	NP_001257376.1:p.Ala562Thr
NM_001270448.1:c.1387G>A	NP_001257377.1:p.Ala463Thr
XM_006721516.2:c.1615G>A	XP_006721579.2:p.Ala539Thr
XM_011523829.1:c.1513G>A	XP_011522131.1:p.Ala505Thr
XM_011523830.1:c.1513G>A	XP_011522132.1:p.Ala505Thr
XR_934021.1:n.1718G>A
XR_934022.1:n.1624G>A
XR_934023.1:n.1624G>A
XM_006721516.3:c.1615G>A	XP_006721579.2:p.Ala539Thr
XM_011523829.2:c.1513G>A	XP_011522131.1:p.Ala505Thr
XM_011523830.2:c.1513G>A	XP_011522132.1:p.Ala505Thr
XM_024450741.1:c.1603G>A	XP_024306509.1:p.Ala535Thr
XR_934021.2:n.1670G>A
XR_934022.2:n.1576G>A
XR_934023.2:n.1576G>A
NM_000018.4:c.1615G>A MANE Select	NP_000009.1:p.Ala539Thr
NM_001033859.3:c.1549G>A	NP_001029031.1:p.Ala517Thr
NM_001270447.2:c.1684G>A	NP_001257376.1:p.Ala562Thr
NM_001270448.2:c.1387G>A	NP_001257377.1:p.Ala463Thr

Linked Data

Genomic Alleles

Transcript Alleles