Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224188A>C , CM000679.2:g.7224188A>C	GRCh38
NC_000017.10:g.7127507A>C , CM000679.1:g.7127507A>C	GRCh37
NC_000017.9:g.7068231A>C	NCBI36
NG_007975.1:g.9355A>C
NG_008391.2:g.863T>G
NG_033038.1:g.15357T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1477A>C MANE Select	ENSP00000349297.5:p.Asn493His
ENST00000322910.9:c.*1432A>C	ENSP00000325395.5:n.*1432A>C
ENST00000350303.9:c.1411A>C	ENSP00000344152.5:p.Asn471His
ENST00000356839.9:c.1477A>C	ENSP00000349297.5:p.Asn493His
ENST00000542255.6:c.335A>C
ENST00000543245.6:c.1546A>C	ENSP00000438689.2:p.Asn516His
ENST00000578711.1:n.684A>C
ENST00000579391.1:n.85A>C
ENST00000579425.5:n.593A>C
ENST00000579546.1:c.271+119A>C
ENST00000579894.5:n.264A>C
ENST00000583074.5:n.153+119A>C
ENST00000583850.5:n.252A>C
ENST00000583858.5:c.463+119A>C
ENST00000585203.6:n.668A>C
NM_000018.3:c.1477A>C	NP_000009.1:p.Asn493His
NM_001033859.2:c.1411A>C	NP_001029031.1:p.Asn471His
NM_001270447.1:c.1546A>C	NP_001257376.1:p.Asn516His
NM_001270448.1:c.1249A>C	NP_001257377.1:p.Asn417His
XM_006721516.2:c.1477A>C	XP_006721579.2:p.Asn493His
XM_011523829.1:c.1434+119A>C	XP_011522131.1:n.1434+119A>C
XM_011523830.1:c.1434+119A>C	XP_011522132.1:n.1434+119A>C
XR_934021.1:n.1584A>C
XR_934022.1:n.1541+119A>C
XR_934023.1:n.1541+119A>C
XM_006721516.3:c.1477A>C	XP_006721579.2:p.Asn493His
XM_011523829.2:c.1434+119A>C	XP_011522131.1:n.1434+119A>C
XM_011523830.2:c.1434+119A>C	XP_011522132.1:n.1434+119A>C
XM_024450741.1:c.1434+119A>C	XP_024306509.1:n.1434+119A>C
XR_934021.2:n.1536A>C
XR_934022.2:n.1493+119A>C
XR_934023.2:n.1493+119A>C
NM_000018.4:c.1477A>C MANE Select	NP_000009.1:p.Asn493His
NM_001033859.3:c.1411A>C	NP_001029031.1:p.Asn471His
NM_001270447.2:c.1546A>C	NP_001257376.1:p.Asn516His
NM_001270448.2:c.1249A>C	NP_001257377.1:p.Asn417His

Linked Data

Genomic Alleles

Transcript Alleles