Canonical Allele Identifier: CA12186399

Gene: HLA-A

Linked Data

• dbSNP Id: rs2975053
• gnomAD v2: 6-29913630-A-C
• gnomAD v3: 6-29945853-A-C
• gnomAD v4: 6-29945853-A-C
• MyVariant Identifiers: chr6:g.29913630A>C (hg19) ; chr6:g.29945853A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29945853A>C , CM000668.2:g.29945853A>C	GRCh38
NC_000006.11:g.29913630A>C , CM000668.1:g.29913630A>C	GRCh37
NC_000006.10:g.30021609A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638375.2:c.1379A>C	ENSP00000492789.2:n.1379A>C
ENST00000706899.1:n.2350A>C
ENST00000706900.1:c.*398A>C	ENSP00000516617.1:n.*398A>C
ENST00000706901.1:c.*398A>C	ENSP00000516612.1:n.*398A>C
ENST00000706902.1:c.1093+572A>C	ENSP00000516613.1:n.1093+572A>C
ENST00000706903.1:c.*124+274A>C	ENSP00000516614.1:n.*124+274A>C
ENST00000706904.1:c.1093+572A>C	ENSP00000516615.1:n.1093+572A>C
ENST00000706905.1:c.*398A>C	ENSP00000516616.1:n.*398A>C
ENST00000376809.10:c.*398A>C MANE Select	ENSP00000366005.5:n.*398A>C
ENST00000376802.2:c.*398A>C	ENSP00000365998.2:n.*398A>C
ENST00000376806.9:c.*398A>C	ENSP00000366002.5:n.*398A>C
ENST00000376809.9:c.*398A>C	ENSP00000366005.5:n.*398A>C
ENST00000396634.5:c.*398A>C	ENSP00000379873.1:n.*398A>C
ENST00000495183.5:n.1735A>C
ENST00000496081.5:n.1755A>C
NM_002116.7:c.*398A>C	NP_002107.3:n.*398A>C
NM_002116.8:c.*398A>C MANE Select	NP_002107.3:n.*398A>C