Canonical Allele Identifier: CA363308890
Gene: HLA-B HGNC NCBI

Linked Data

gnomAD v4: 6-31355169-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355169A>T , CM000668.2:g.31355169A>T GRCh38
NC_000006.11:g.31322946A>T , CM000668.1:g.31322946A>T GRCh37
NC_000006.10:g.31430925A>T NCBI36
NG_023187.1:g.7044T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.2997T>A
ENST00000481849.6:n.2516T>A
ENST00000497377.6:n.2423T>A
ENST00000640094.2:c.895+148T>A ENSP00000491275.2:n.895+148T>A
ENST00000696558.1:c.1019T>A ENSP00000512716.1:n.1019T>A
ENST00000696559.1:c.950T>A ENSP00000512717.1:p.Val317Asp
ENST00000696560.1:c.950T>A ENSP00000512718.1:p.Val317Asp
ENST00000696561.1:c.950T>A ENSP00000512719.1:p.Val317Asp
ENST00000696562.1:c.950T>A ENSP00000512720.1:p.Val317Asp
ENST00000412585.7:c.950T>A MANE Select ENSP00000399168.2:p.Val317Asp
ENST00000640094.1:c.88+148T>A ENSP00000491275.1:n.88+148T>A
ENST00000412585.6:c.950T>A ENSP00000399168.2:p.Val317Asp
ENST00000463574.1:n.541T>A
NM_005514.6:c.950T>A NP_005505.2:p.Val317Asp
XM_011514556.1:c.983T>A XP_011512858.1:p.Val328Asp
XM_011514557.1:c.895+148T>A XP_011512859.1:n.895+148T>A
XR_926175.1:n.1389T>A
NM_005514.7:c.950T>A NP_005505.2:p.Val317Asp
NM_005514.8:c.950T>A MANE Select NP_005505.2:p.Val317Asp