Canonical Allele Identifier: CA363315060
Gene: HLA-B HGNC NCBI

Linked Data

gnomAD v4: 6-31357109-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31357109A>T , CM000668.2:g.31357109A>T GRCh38
NC_000006.11:g.31324886A>T , CM000668.1:g.31324886A>T GRCh37
NC_000006.10:g.31432865A>T NCBI36
NG_023187.1:g.5104T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.1523T>A
ENST00000481849.6:n.1523T>A
ENST00000497377.6:n.1523T>A
ENST00000640094.2:c.50T>A ENSP00000491275.2:p.Leu17Gln
ENST00000696558.1:c.50T>A ENSP00000512716.1:p.Leu17Gln
ENST00000696559.1:c.50T>A ENSP00000512717.1:p.Leu17Gln
ENST00000696560.1:c.50T>A ENSP00000512718.1:p.Leu17Gln
ENST00000696561.1:c.50T>A ENSP00000512719.1:p.Leu17Gln
ENST00000696562.1:c.50T>A ENSP00000512720.1:p.Leu17Gln
ENST00000412585.7:c.50T>A MANE Select ENSP00000399168.2:p.Leu17Gln
ENST00000412585.6:c.50T>A ENSP00000399168.2:p.Leu17Gln
ENST00000434333.1:c.-46T>A ENSP00000405931.1:n.-46T>A
ENST00000498007.1:n.71T>A
ENST00000603274.1:n.463A>T
NM_005514.6:c.50T>A NP_005505.2:p.Leu17Gln
XM_011514557.1:c.50T>A XP_011512859.1:p.Leu17Gln
XR_926175.1:n.60T>A
NM_005514.7:c.50T>A NP_005505.2:p.Leu17Gln
NM_005514.8:c.50T>A MANE Select NP_005505.2:p.Leu17Gln