Canonical Allele Identifier: CA363308038
Gene: HLA-B HGNC NCBI

Linked Data

gnomAD v4: 6-31354524-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354524T>G , CM000668.2:g.31354524T>G GRCh38
NC_000006.11:g.31322301T>G , CM000668.1:g.31322301T>G GRCh37
NC_000006.10:g.31430280T>G NCBI36
NG_023187.1:g.7689A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3095A>C
ENST00000481849.6:n.3055A>C
ENST00000497377.6:n.2962A>C
ENST00000640094.2:c.931A>C ENSP00000491275.2:p.Ser311Arg
ENST00000696558.1:c.1117A>C ENSP00000512716.1:n.1117A>C
ENST00000696559.1:c.1048A>C ENSP00000512717.1:p.Ser350Arg
ENST00000696560.1:c.1048A>C ENSP00000512718.1:p.Ser350Arg
ENST00000696561.1:c.1048A>C ENSP00000512719.1:p.Ser350Arg
ENST00000696562.1:c.1048A>C ENSP00000512720.1:p.Ser350Arg
ENST00000412585.7:c.1048A>C MANE Select ENSP00000399168.2:p.Ser350Arg
ENST00000640094.1:c.124A>C ENSP00000491275.1:p.Ser42Arg
ENST00000412585.6:c.1048A>C ENSP00000399168.2:p.Ser350Arg
ENST00000481849.5:n.283A>C
ENST00000497377.5:n.447A>C
NM_005514.6:c.1048A>C NP_005505.2:p.Ser350Arg
XM_011514556.1:c.1081A>C XP_011512858.1:p.Ser361Arg
XM_011514557.1:c.931A>C XP_011512859.1:p.Ser311Arg
XR_926175.1:n.1487A>C
NM_005514.7:c.1048A>C NP_005505.2:p.Ser350Arg
NM_005514.8:c.1048A>C MANE Select NP_005505.2:p.Ser350Arg