Canonical Allele Identifier: CA3711516

Gene: HLA-B

Linked Data

• dbSNP Id: rs151341319
• ExAC: 6:31323995 C / A
• gnomAD v3: 6-31356218-C-A
• gnomAD v4: 6-31356218-C-A
• COSMIC: COSM4690637
• MyVariant Identifiers: chr6:g.31323995C>A (hg19) ; chr6:g.31356218C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31356218C>A , CM000668.2:g.31356218C>A	GRCh38
NC_000006.11:g.31323995C>A , CM000668.1:g.31323995C>A	GRCh37
NC_000006.10:g.31431974C>A	NCBI36
NG_023187.1:g.5995G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474381.2:n.2041G>T
ENST00000481849.6:n.2041G>T
ENST00000497377.6:n.2041G>T
ENST00000640094.2:c.568G>T	ENSP00000491275.2:p.Glu190Ter
ENST00000696558.1:c.568G>T	ENSP00000512716.1:p.Glu190Ter
ENST00000696559.1:c.568G>T	ENSP00000512717.1:p.Glu190Ter
ENST00000696560.1:c.568G>T	ENSP00000512718.1:p.Glu190Ter
ENST00000696561.1:c.568G>T	ENSP00000512719.1:p.Glu190Ter
ENST00000696562.1:c.568G>T	ENSP00000512720.1:p.Glu190Ter
ENST00000412585.7:c.568G>T MANE Select	ENSP00000399168.2:p.Glu190Ter
ENST00000412585.6:c.568G>T	ENSP00000399168.2:p.Glu190Ter
ENST00000434333.1:c.601G>T	ENSP00000405931.1:p.Glu201Ter
ENST00000474381.1:n.443G>T
ENST00000498007.1:n.834G>T
NM_005514.6:c.568G>T	NP_005505.2:p.Glu190Ter
XM_011514556.1:c.601G>T	XP_011512858.1:p.Glu201Ter
XM_011514557.1:c.568G>T	XP_011512859.1:p.Glu190Ter
XR_926175.1:n.578G>T
NM_005514.7:c.568G>T	NP_005505.2:p.Glu190Ter
NM_005514.8:c.568G>T MANE Select	NP_005505.2:p.Glu190Ter