Canonical Allele Identifier: CA363046338

Gene: HLA-A

Linked Data

• gnomAD v4: 6-29944250-C-G
• MyVariant Identifiers: chr6:g.29912027C>G (hg19) ; chr6:g.29944250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29944250C>G , CM000668.2:g.29944250C>G	GRCh38
NC_000006.11:g.29912027C>G , CM000668.1:g.29912027C>G	GRCh37
NC_000006.10:g.30020006C>G	NCBI36
NG_029217.2:g.6786C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638375.2:c.748C>G	ENSP00000492789.2:p.Gln250Glu
ENST00000706892.1:n.1602C>G
ENST00000706893.1:c.748C>G	ENSP00000516609.1:p.Gln250Glu
ENST00000706894.1:c.748C>G	ENSP00000516610.1:p.Gln250Glu
ENST00000706895.1:n.1024C>G
ENST00000706896.1:n.1602C>G
ENST00000706897.1:n.1024C>G
ENST00000706898.1:c.748C>G	ENSP00000516611.1:p.Gln250Glu
ENST00000706899.1:n.1602C>G
ENST00000706900.1:c.664C>G	ENSP00000516617.1:p.Gln222Glu
ENST00000706901.1:c.748C>G	ENSP00000516612.1:p.Gln250Glu
ENST00000706902.1:c.748C>G	ENSP00000516613.1:p.Gln250Glu
ENST00000706903.1:c.748C>G	ENSP00000516614.1:p.Gln250Glu
ENST00000706904.1:c.748C>G	ENSP00000516615.1:p.Gln250Glu
ENST00000706905.1:c.748C>G	ENSP00000516616.1:p.Gln250Glu
ENST00000376809.10:c.748C>G MANE Select	ENSP00000366005.5:p.Gln250Glu
ENST00000638375.1:c.748C>G	ENSP00000492789.1:p.Gln250Glu
ENST00000376802.2:c.748C>G	ENSP00000365998.2:p.Gln250Glu
ENST00000376806.9:c.748C>G	ENSP00000366002.5:p.Gln250Glu
ENST00000376809.9:c.748C>G	ENSP00000366005.5:p.Gln250Glu
ENST00000396634.5:c.748C>G	ENSP00000379873.1:p.Gln250Glu
ENST00000461903.1:n.989C>G
ENST00000479320.5:n.989C>G
ENST00000495183.5:n.991C>G
ENST00000496081.5:n.565C>G
NM_002116.7:c.748C>G	NP_002107.3:p.Gln250Glu
NM_002116.8:c.748C>G MANE Select	NP_002107.3:p.Gln250Glu