Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224202T>A , CM000679.2:g.7224202T>A	GRCh38
NC_000017.10:g.7127521T>A , CM000679.1:g.7127521T>A	GRCh37
NC_000017.9:g.7068245T>A	NCBI36
NG_007975.1:g.9369T>A
NG_008391.2:g.849A>T
NG_033038.1:g.15343A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1491T>A MANE Select	ENSP00000349297.5:p.Asn497Lys
ENST00000322910.9:c.*1446T>A	ENSP00000325395.5:n.*1446T>A
ENST00000350303.9:c.1425T>A	ENSP00000344152.5:p.Asn475Lys
ENST00000356839.9:c.1491T>A	ENSP00000349297.5:p.Asn497Lys
ENST00000542255.6:c.349T>A
ENST00000543245.6:c.1560T>A	ENSP00000438689.2:p.Asn520Lys
ENST00000578711.1:n.698T>A
ENST00000579391.1:n.99T>A
ENST00000579425.5:n.607T>A
ENST00000579546.1:c.272-119T>A
ENST00000579894.5:n.278T>A
ENST00000583074.5:n.154-119T>A
ENST00000583850.5:n.266T>A
ENST00000583858.5:c.464-119T>A
ENST00000585203.6:n.682T>A
NM_000018.3:c.1491T>A	NP_000009.1:p.Asn497Lys
NM_001033859.2:c.1425T>A	NP_001029031.1:p.Asn475Lys
NM_001270447.1:c.1560T>A	NP_001257376.1:p.Asn520Lys
NM_001270448.1:c.1263T>A	NP_001257377.1:p.Asn421Lys
XM_006721516.2:c.1491T>A	XP_006721579.2:p.Asn497Lys
XM_011523829.1:c.1435-119T>A	XP_011522131.1:n.1435-119T>A
XM_011523830.1:c.1435-119T>A	XP_011522132.1:n.1435-119T>A
XR_934021.1:n.1598T>A
XR_934022.1:n.1542-119T>A
XR_934023.1:n.1542-119T>A
XM_006721516.3:c.1491T>A	XP_006721579.2:p.Asn497Lys
XM_011523829.2:c.1435-119T>A	XP_011522131.1:n.1435-119T>A
XM_011523830.2:c.1435-119T>A	XP_011522132.1:n.1435-119T>A
XM_024450741.1:c.1435-119T>A	XP_024306509.1:n.1435-119T>A
XR_934021.2:n.1550T>A
XR_934022.2:n.1494-119T>A
XR_934023.2:n.1494-119T>A
NM_000018.4:c.1491T>A MANE Select	NP_000009.1:p.Asn497Lys
NM_001033859.3:c.1425T>A	NP_001029031.1:p.Asn475Lys
NM_001270447.2:c.1560T>A	NP_001257376.1:p.Asn520Lys
NM_001270448.2:c.1263T>A	NP_001257377.1:p.Asn421Lys

Linked Data

Genomic Alleles

Transcript Alleles