Canonical Allele Identifier: CA363308472
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs2113734916
gnomAD v3: 6-31355116-T-G
gnomAD v4: 6-31355116-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355116T>G , CM000668.2:g.31355116T>G GRCh38
NC_000006.11:g.31322893T>G , CM000668.1:g.31322893T>G GRCh37
NC_000006.10:g.31430872T>G NCBI36
NG_023187.1:g.7097A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3050A>C
ENST00000481849.6:n.2569A>C
ENST00000497377.6:n.2476A>C
ENST00000640094.2:c.895+201A>C ENSP00000491275.2:n.895+201A>C
ENST00000696558.1:c.1072A>C ENSP00000512716.1:n.1072A>C
ENST00000696559.1:c.1003A>C ENSP00000512717.1:p.Lys335Gln
ENST00000696560.1:c.1003A>C ENSP00000512718.1:p.Lys335Gln
ENST00000696561.1:c.1003A>C ENSP00000512719.1:p.Lys335Gln
ENST00000696562.1:c.1003A>C ENSP00000512720.1:p.Lys335Gln
ENST00000412585.7:c.1003A>C MANE Select ENSP00000399168.2:p.Lys335Gln
ENST00000640094.1:c.88+201A>C ENSP00000491275.1:n.88+201A>C
ENST00000412585.6:c.1003A>C ENSP00000399168.2:p.Lys335Gln
NM_005514.6:c.1003A>C NP_005505.2:p.Lys335Gln
XM_011514556.1:c.1036A>C XP_011512858.1:p.Lys346Gln
XM_011514557.1:c.895+201A>C XP_011512859.1:n.895+201A>C
XR_926175.1:n.1442A>C
NM_005514.7:c.1003A>C NP_005505.2:p.Lys335Gln
NM_005514.8:c.1003A>C MANE Select NP_005505.2:p.Lys335Gln