Canonical Allele Identifier: CA3693283

Gene: HLA-A

Linked Data

• dbSNP Id: rs41543114
• ExAC: 6:29911047 T / G
• gnomAD v2: 6-29911047-T-G
• gnomAD v3: 6-29943270-T-G
• gnomAD v4: 6-29943270-T-G
• MyVariant Identifiers: chr6:g.29911047T>G (hg19) ; chr6:g.29943270T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29943270T>G , CM000668.2:g.29943270T>G	GRCh38
NC_000006.11:g.29911047T>G , CM000668.1:g.29911047T>G	GRCh37
NC_000006.10:g.30019026T>G	NCBI36
NG_029217.2:g.5805T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000638375.2:c.346T>G	ENSP00000492789.2:p.Ser116Ala
ENST00000706892.1:n.622T>G
ENST00000706893.1:c.346T>G	ENSP00000516609.1:p.Ser116Ala
ENST00000706894.1:c.346T>G	ENSP00000516610.1:p.Ser116Ala
ENST00000706895.1:n.622T>G
ENST00000706896.1:n.622T>G
ENST00000706897.1:n.622T>G
ENST00000706898.1:c.346T>G	ENSP00000516611.1:p.Ser116Ala
ENST00000706899.1:n.622T>G
ENST00000706900.1:c.262T>G	ENSP00000516617.1:p.Ser88Ala
ENST00000706901.1:c.346T>G	ENSP00000516612.1:p.Ser116Ala
ENST00000706902.1:c.346T>G	ENSP00000516613.1:p.Ser116Ala
ENST00000706903.1:c.346T>G	ENSP00000516614.1:p.Ser116Ala
ENST00000706904.1:c.346T>G	ENSP00000516615.1:p.Ser116Ala
ENST00000706905.1:c.346T>G	ENSP00000516616.1:p.Ser116Ala
ENST00000376809.10:c.346T>G MANE Select	ENSP00000366005.5:p.Ser116Ala
ENST00000638375.1:c.346T>G	ENSP00000492789.1:p.Ser116Ala
ENST00000376802.2:c.346T>G	ENSP00000365998.2:p.Ser116Ala
ENST00000376806.9:c.346T>G	ENSP00000366002.5:p.Ser116Ala
ENST00000376809.9:c.346T>G	ENSP00000366005.5:p.Ser116Ala
ENST00000396634.5:c.346T>G	ENSP00000379873.1:p.Ser116Ala
ENST00000461903.1:n.587T>G
ENST00000479320.5:n.587T>G
ENST00000495183.5:n.589T>G
ENST00000496081.5:n.178-15T>G
NM_002116.7:c.346T>G	NP_002107.3:p.Ser116Ala
NM_002116.8:c.346T>G MANE Select	NP_002107.3:p.Ser116Ala