Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224190T>A , CM000679.2:g.7224190T>A	GRCh38
NC_000017.10:g.7127509T>A , CM000679.1:g.7127509T>A	GRCh37
NC_000017.9:g.7068233T>A	NCBI36
NG_007975.1:g.9357T>A
NG_008391.2:g.861A>T
NG_033038.1:g.15355A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1479T>A MANE Select	ENSP00000349297.5:p.Asn493Lys
ENST00000322910.9:c.*1434T>A	ENSP00000325395.5:n.*1434T>A
ENST00000350303.9:c.1413T>A	ENSP00000344152.5:p.Asn471Lys
ENST00000356839.9:c.1479T>A	ENSP00000349297.5:p.Asn493Lys
ENST00000542255.6:c.337T>A
ENST00000543245.6:c.1548T>A	ENSP00000438689.2:p.Asn516Lys
ENST00000578711.1:n.686T>A
ENST00000579391.1:n.87T>A
ENST00000579425.5:n.595T>A
ENST00000579546.1:c.271+121T>A
ENST00000579894.5:n.266T>A
ENST00000583074.5:n.153+121T>A
ENST00000583850.5:n.254T>A
ENST00000583858.5:c.463+121T>A
ENST00000585203.6:n.670T>A
NM_000018.3:c.1479T>A	NP_000009.1:p.Asn493Lys
NM_001033859.2:c.1413T>A	NP_001029031.1:p.Asn471Lys
NM_001270447.1:c.1548T>A	NP_001257376.1:p.Asn516Lys
NM_001270448.1:c.1251T>A	NP_001257377.1:p.Asn417Lys
XM_006721516.2:c.1479T>A	XP_006721579.2:p.Asn493Lys
XM_011523829.1:c.1434+121T>A	XP_011522131.1:n.1434+121T>A
XM_011523830.1:c.1434+121T>A	XP_011522132.1:n.1434+121T>A
XR_934021.1:n.1586T>A
XR_934022.1:n.1541+121T>A
XR_934023.1:n.1541+121T>A
XM_006721516.3:c.1479T>A	XP_006721579.2:p.Asn493Lys
XM_011523829.2:c.1434+121T>A	XP_011522131.1:n.1434+121T>A
XM_011523830.2:c.1434+121T>A	XP_011522132.1:n.1434+121T>A
XM_024450741.1:c.1434+121T>A	XP_024306509.1:n.1434+121T>A
XR_934021.2:n.1538T>A
XR_934022.2:n.1493+121T>A
XR_934023.2:n.1493+121T>A
NM_000018.4:c.1479T>A MANE Select	NP_000009.1:p.Asn493Lys
NM_001033859.3:c.1413T>A	NP_001029031.1:p.Asn471Lys
NM_001270447.2:c.1548T>A	NP_001257376.1:p.Asn516Lys
NM_001270448.2:c.1251T>A	NP_001257377.1:p.Asn417Lys

Linked Data

Genomic Alleles

Transcript Alleles