Canonical Allele Identifier: CA363891896
Gene: HLA-B HGNC NCBI

Linked Data

gnomAD v4: 6-31356397-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31356397T>A , CM000668.2:g.31356397T>A GRCh38
NC_000006.11:g.31324174T>A , CM000668.1:g.31324174T>A GRCh37
NC_000006.10:g.31432153T>A NCBI36
NG_023187.1:g.5816A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000474381.2:n.1862A>T
ENST00000481849.6:n.1862A>T
ENST00000497377.6:n.1862A>T
ENST00000640094.2:c.389A>T ENSP00000491275.2:p.Asp130Val
ENST00000696558.1:c.389A>T ENSP00000512716.1:p.Asp130Val
ENST00000696559.1:c.389A>T ENSP00000512717.1:p.Asp130Val
ENST00000696560.1:c.389A>T ENSP00000512718.1:p.Asp130Val
ENST00000696561.1:c.389A>T ENSP00000512719.1:p.Asp130Val
ENST00000696562.1:c.389A>T ENSP00000512720.1:p.Asp130Val
ENST00000412585.7:c.389A>T MANE Select ENSP00000399168.2:p.Asp130Val
ENST00000412585.6:c.389A>T ENSP00000399168.2:p.Asp130Val
ENST00000434333.1:c.422A>T ENSP00000405931.1:p.Asp141Val
ENST00000474381.1:n.264A>T
ENST00000498007.1:n.655A>T
NM_005514.6:c.389A>T NP_005505.2:p.Asp130Val
XM_011514556.1:c.422A>T XP_011512858.1:p.Asp141Val
XM_011514557.1:c.389A>T XP_011512859.1:p.Asp130Val
XR_926175.1:n.399A>T
NM_005514.7:c.389A>T NP_005505.2:p.Asp130Val
NM_005514.8:c.389A>T MANE Select NP_005505.2:p.Asp130Val