Canonical Allele Identifier: CA3693518

Gene: HLA-A

Linked Data

• dbSNP Id: rs750716931
• ExAC: 6:29911968 T / G
• gnomAD v2: 6-29911968-T-G
• gnomAD v3: 6-29944191-T-G
• gnomAD v4: 6-29944191-T-G
• MyVariant Identifiers: chr6:g.29911968T>G (hg19) ; chr6:g.29944191T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29944191T>G , CM000668.2:g.29944191T>G	GRCh38
NC_000006.11:g.29911968T>G , CM000668.1:g.29911968T>G	GRCh37
NC_000006.10:g.30019947T>G	NCBI36
NG_029217.2:g.6727T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000638375.2:c.689T>G	ENSP00000492789.2:p.Leu230Arg
ENST00000706892.1:n.1543T>G
ENST00000706893.1:c.689T>G	ENSP00000516609.1:p.Leu230Arg
ENST00000706894.1:c.689T>G	ENSP00000516610.1:p.Leu230Arg
ENST00000706895.1:n.965T>G
ENST00000706896.1:n.1543T>G
ENST00000706897.1:n.965T>G
ENST00000706898.1:c.689T>G	ENSP00000516611.1:p.Leu230Arg
ENST00000706899.1:n.1543T>G
ENST00000706900.1:c.605T>G	ENSP00000516617.1:p.Leu202Arg
ENST00000706901.1:c.689T>G	ENSP00000516612.1:p.Leu230Arg
ENST00000706902.1:c.689T>G	ENSP00000516613.1:p.Leu230Arg
ENST00000706903.1:c.689T>G	ENSP00000516614.1:p.Leu230Arg
ENST00000706904.1:c.689T>G	ENSP00000516615.1:p.Leu230Arg
ENST00000706905.1:c.689T>G	ENSP00000516616.1:p.Leu230Arg
ENST00000376809.10:c.689T>G MANE Select	ENSP00000366005.5:p.Leu230Arg
ENST00000638375.1:c.689T>G	ENSP00000492789.1:p.Leu230Arg
ENST00000376802.2:c.689T>G	ENSP00000365998.2:p.Leu230Arg
ENST00000376806.9:c.689T>G	ENSP00000366002.5:p.Leu230Arg
ENST00000376809.9:c.689T>G	ENSP00000366005.5:p.Leu230Arg
ENST00000396634.5:c.689T>G	ENSP00000379873.1:p.Leu230Arg
ENST00000461903.1:n.930T>G
ENST00000479320.5:n.930T>G
ENST00000495183.5:n.932T>G
ENST00000496081.5:n.506T>G
NM_002116.7:c.689T>G	NP_002107.3:p.Leu230Arg
NM_002116.8:c.689T>G MANE Select	NP_002107.3:p.Leu230Arg