Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220631T>A , CM000679.2:g.7220631T>A	GRCh38
NC_000017.10:g.7123950T>A , CM000679.1:g.7123950T>A	GRCh37
NC_000017.9:g.7064674T>A	NCBI36
NG_007975.1:g.5798T>A
NG_008391.2:g.4420A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.232T>A MANE Select	ENSP00000349297.5:p.Phe78Ile
ENST00000322910.9:c.*187T>A	ENSP00000325395.5:n.*187T>A
ENST00000350303.9:c.166T>A	ENSP00000344152.5:p.Phe56Ile
ENST00000356839.9:c.232T>A	ENSP00000349297.5:p.Phe78Ile
ENST00000543245.6:c.301T>A	ENSP00000438689.2:p.Phe101Ile
ENST00000577191.5:n.309T>A
ENST00000577433.5:n.440T>A
ENST00000577857.5:n.229-135T>A
ENST00000578269.5:n.679T>A
ENST00000578421.1:n.440T>A
ENST00000579286.5:n.413T>A
ENST00000579886.2:c.201+105T>A	ENSP00000463246.1:n.201+105T>A
ENST00000580263.5:n.396T>A
ENST00000581562.5:n.279T>A
ENST00000582056.5:n.322T>A
ENST00000582166.1:n.120T>A
ENST00000582356.5:n.431T>A
ENST00000583312.5:c.232T>A	ENSP00000467920.1:p.Phe78Ile
ENST00000584103.5:c.232T>A	ENSP00000465353.1:p.Phe78Ile
NM_000018.3:c.232T>A	NP_000009.1:p.Phe78Ile
NM_001033859.2:c.166T>A	NP_001029031.1:p.Phe56Ile
NM_001270447.1:c.301T>A	NP_001257376.1:p.Phe101Ile
NM_001270448.1:c.4T>A	NP_001257377.1:p.Phe2Ile
XM_006721516.2:c.232T>A	XP_006721579.2:p.Phe78Ile
XM_011523829.1:c.232T>A	XP_011522131.1:p.Phe78Ile
XM_011523830.1:c.232T>A	XP_011522132.1:p.Phe78Ile
XR_934021.1:n.339T>A
XR_934022.1:n.339T>A
XR_934023.1:n.339T>A
XM_006721516.3:c.232T>A	XP_006721579.2:p.Phe78Ile
XM_011523829.2:c.232T>A	XP_011522131.1:p.Phe78Ile
XM_011523830.2:c.232T>A	XP_011522132.1:p.Phe78Ile
XM_024450741.1:c.232T>A	XP_024306509.1:p.Phe78Ile
XR_934021.2:n.291T>A
XR_934022.2:n.291T>A
XR_934023.2:n.291T>A
NM_000018.4:c.232T>A MANE Select	NP_000009.1:p.Phe78Ile
NM_001033859.3:c.166T>A	NP_001029031.1:p.Phe56Ile
NM_001270447.2:c.301T>A	NP_001257376.1:p.Phe101Ile
NM_001270448.2:c.4T>A	NP_001257377.1:p.Phe2Ile

Linked Data

Genomic Alleles

Transcript Alleles