Canonical Allele Identifier: CA3693753

Gene: HLA-A

Linked Data

• dbSNP Id: rs2975056
• ExAC: 6:29913179 C / T
• gnomAD v2: 6-29913179-C-T
• gnomAD v3: 6-29945402-C-T
• gnomAD v4: 6-29945402-C-T
• MyVariant Identifiers: chr6:g.29913179C>T (hg19) ; chr6:g.29945402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29945402C>T , CM000668.2:g.29945402C>T	GRCh38
NC_000006.11:g.29913179C>T , CM000668.1:g.29913179C>T	GRCh37
NC_000006.10:g.30021158C>T	NCBI36
NG_029217.2:g.7938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638375.2:c.977-49C>T	ENSP00000492789.2:n.977-49C>T
ENST00000706892.1:n.2754C>T
ENST00000706893.1:c.*78-49C>T	ENSP00000516609.1:n.*78-49C>T
ENST00000706894.1:c.*29C>T	ENSP00000516610.1:n.*29C>T
ENST00000706895.1:n.2034C>T
ENST00000706896.1:n.2390-49C>T
ENST00000706897.1:n.1812-49C>T
ENST00000706898.1:c.1112-49C>T	ENSP00000516611.1:n.1112-49C>T
ENST00000706899.1:n.1948-49C>T
ENST00000706900.1:c.1010-49C>T	ENSP00000516617.1:n.1010-49C>T
ENST00000706901.1:c.1094-49C>T	ENSP00000516612.1:n.1094-49C>T
ENST00000706902.1:c.1093+121C>T	ENSP00000516613.1:n.1093+121C>T
ENST00000706903.1:c.1094-49C>T	ENSP00000516614.1:n.1094-49C>T
ENST00000706904.1:c.1093+121C>T	ENSP00000516615.1:n.1093+121C>T
ENST00000706905.1:c.1094-49C>T	ENSP00000516616.1:n.1094-49C>T
ENST00000376809.10:c.1094-49C>T MANE Select	ENSP00000366005.5:n.1094-49C>T
ENST00000376802.2:c.896-49C>T	ENSP00000365998.2:n.896-49C>T
ENST00000376806.9:c.1112-49C>T	ENSP00000366002.5:n.1112-49C>T
ENST00000376809.9:c.1094-49C>T	ENSP00000366005.5:n.1094-49C>T
ENST00000396634.5:c.1094-49C>T	ENSP00000379873.1:n.1094-49C>T
ENST00000495183.5:n.1333-49C>T
ENST00000496081.5:n.1353-49C>T
NM_002116.7:c.1094-49C>T	NP_002107.3:n.1094-49C>T
NM_002116.8:c.1094-49C>T MANE Select	NP_002107.3:n.1094-49C>T