Canonical Allele Identifier: CA363049129

Gene: HLA-A

Linked Data

• dbSNP Id: rs1454769558
• gnomAD v3: 6-29945449-A-C
• gnomAD v4: 6-29945449-A-C
• MyVariant Identifiers: chr6:g.29913226A>C (hg19) ; chr6:g.29945449A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29945449A>C , CM000668.2:g.29945449A>C	GRCh38
NC_000006.11:g.29913226A>C , CM000668.1:g.29913226A>C	GRCh37
NC_000006.10:g.30021205A>C	NCBI36
NG_029217.2:g.7985A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638375.2:c.977-2A>C	ENSP00000492789.2:n.977-2A>C
ENST00000706892.1:n.2801A>C
ENST00000706893.1:c.*78-2A>C	ENSP00000516609.1:n.*78-2A>C
ENST00000706894.1:c.*76A>C	ENSP00000516610.1:n.*76A>C
ENST00000706895.1:n.2081A>C
ENST00000706896.1:n.2390-2A>C
ENST00000706897.1:n.1812-2A>C
ENST00000706898.1:c.1112-2A>C	ENSP00000516611.1:n.1112-2A>C
ENST00000706899.1:n.1948-2A>C
ENST00000706900.1:c.1010-2A>C	ENSP00000516617.1:n.1010-2A>C
ENST00000706901.1:c.1094-2A>C	ENSP00000516612.1:n.1094-2A>C
ENST00000706902.1:c.1093+168A>C	ENSP00000516613.1:n.1093+168A>C
ENST00000706903.1:c.1094-2A>C	ENSP00000516614.1:n.1094-2A>C
ENST00000706904.1:c.1093+168A>C	ENSP00000516615.1:n.1093+168A>C
ENST00000706905.1:c.1094-2A>C	ENSP00000516616.1:n.1094-2A>C
ENST00000376809.10:c.1094-2A>C MANE Select	ENSP00000366005.5:n.1094-2A>C
ENST00000376802.2:c.896-2A>C	ENSP00000365998.2:n.896-2A>C
ENST00000376806.9:c.1112-2A>C	ENSP00000366002.5:n.1112-2A>C
ENST00000376809.9:c.1094-2A>C	ENSP00000366005.5:n.1094-2A>C
ENST00000396634.5:c.1094-2A>C	ENSP00000379873.1:n.1094-2A>C
ENST00000495183.5:n.1333-2A>C
ENST00000496081.5:n.1353-2A>C
NM_002116.7:c.1094-2A>C	NP_002107.3:n.1094-2A>C
NM_002116.8:c.1094-2A>C MANE Select	NP_002107.3:n.1094-2A>C