Canonical Allele Identifier: CA136831906
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs944998030
gnomAD v3: 6-31354521-C-T
gnomAD v4: 6-31354521-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354521C>T , CM000668.2:g.31354521C>T GRCh38
NC_000006.11:g.31322298C>T , CM000668.1:g.31322298C>T GRCh37
NC_000006.10:g.31430277C>T NCBI36
NG_023187.1:g.7692G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3098G>A
ENST00000481849.6:n.3058G>A
ENST00000497377.6:n.2965G>A
ENST00000640094.2:c.934G>A ENSP00000491275.2:p.Asp312Asn
ENST00000696558.1:c.1120G>A ENSP00000512716.1:n.1120G>A
ENST00000696559.1:c.1051G>A ENSP00000512717.1:p.Asp351Asn
ENST00000696560.1:c.1051G>A ENSP00000512718.1:p.Asp351Asn
ENST00000696561.1:c.1051G>A ENSP00000512719.1:p.Asp351Asn
ENST00000696562.1:c.1051G>A ENSP00000512720.1:p.Asp351Asn
ENST00000412585.7:c.1051G>A MANE Select ENSP00000399168.2:p.Asp351Asn
ENST00000640094.1:c.127G>A ENSP00000491275.1:p.Asp43Asn
ENST00000412585.6:c.1051G>A ENSP00000399168.2:p.Asp351Asn
ENST00000481849.5:n.286G>A
ENST00000497377.5:n.450G>A
NM_005514.6:c.1051G>A NP_005505.2:p.Asp351Asn
XM_011514556.1:c.1084G>A XP_011512858.1:p.Asp362Asn
XM_011514557.1:c.934G>A XP_011512859.1:p.Asp312Asn
XR_926175.1:n.1490G>A
NM_005514.7:c.1051G>A NP_005505.2:p.Asp351Asn
NM_005514.8:c.1051G>A MANE Select NP_005505.2:p.Asp351Asn