Canonical Allele Identifier: CA136836073
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs151341216
gnomAD v3: 6-31356422-T-G
gnomAD v4: 6-31356422-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31356422T>G , CM000668.2:g.31356422T>G GRCh38
NC_000006.11:g.31324199T>G , CM000668.1:g.31324199T>G GRCh37
NC_000006.10:g.31432178T>G NCBI36
NG_023187.1:g.5791A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.1837A>C
ENST00000481849.6:n.1837A>C
ENST00000497377.6:n.1837A>C
ENST00000640094.2:c.364A>C ENSP00000491275.2:p.Met122Leu
ENST00000696558.1:c.364A>C ENSP00000512716.1:p.Met122Leu
ENST00000696559.1:c.364A>C ENSP00000512717.1:p.Met122Leu
ENST00000696560.1:c.364A>C ENSP00000512718.1:p.Met122Leu
ENST00000696561.1:c.364A>C ENSP00000512719.1:p.Met122Leu
ENST00000696562.1:c.364A>C ENSP00000512720.1:p.Met122Leu
ENST00000412585.7:c.364A>C MANE Select ENSP00000399168.2:p.Met122Leu
ENST00000412585.6:c.364A>C ENSP00000399168.2:p.Met122Leu
ENST00000434333.1:c.397A>C ENSP00000405931.1:p.Met133Leu
ENST00000474381.1:n.239A>C
ENST00000498007.1:n.630A>C
NM_005514.6:c.364A>C NP_005505.2:p.Met122Leu
XM_011514556.1:c.397A>C XP_011512858.1:p.Met133Leu
XM_011514557.1:c.364A>C XP_011512859.1:p.Met122Leu
XR_926175.1:n.374A>C
NM_005514.7:c.364A>C NP_005505.2:p.Met122Leu
NM_005514.8:c.364A>C MANE Select NP_005505.2:p.Met122Leu