Canonical Allele Identifier: CA136836309
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs75063535
gnomAD v3: 6-31356691-C-T
gnomAD v4: 6-31356691-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31356691C>T , CM000668.2:g.31356691C>T GRCh38
NC_000006.11:g.31324468C>T , CM000668.1:g.31324468C>T GRCh37
NC_000006.10:g.31432447C>T NCBI36
NG_023187.1:g.5522G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.1813G>A
ENST00000481849.6:n.1813G>A
ENST00000497377.6:n.1813G>A
ENST00000640094.2:c.340G>A ENSP00000491275.2:p.Ala114Thr
ENST00000696558.1:c.340G>A ENSP00000512716.1:p.Ala114Thr
ENST00000696559.1:c.340G>A ENSP00000512717.1:p.Ala114Thr
ENST00000696560.1:c.340G>A ENSP00000512718.1:p.Ala114Thr
ENST00000696561.1:c.340G>A ENSP00000512719.1:p.Ala114Thr
ENST00000696562.1:c.340G>A ENSP00000512720.1:p.Ala114Thr
ENST00000412585.7:c.340G>A MANE Select ENSP00000399168.2:p.Ala114Thr
ENST00000412585.6:c.340G>A ENSP00000399168.2:p.Ala114Thr
ENST00000434333.1:c.373G>A ENSP00000405931.1:p.Ala125Thr
ENST00000474381.1:n.215G>A
ENST00000498007.1:n.361G>A
ENST00000603274.1:n.45C>T
NM_005514.6:c.340G>A NP_005505.2:p.Ala114Thr
XM_011514556.1:c.373G>A XP_011512858.1:p.Ala125Thr
XM_011514557.1:c.340G>A XP_011512859.1:p.Ala114Thr
XR_926175.1:n.350G>A
NM_005514.7:c.340G>A NP_005505.2:p.Ala114Thr
NM_005514.8:c.340G>A MANE Select NP_005505.2:p.Ala114Thr