Canonical Allele Identifier: CA363047904

Gene: HLA-A

Linked Data

• gnomAD v4: 6-29944554-T-C
• MyVariant Identifiers: chr6:g.29912331T>C (hg19) ; chr6:g.29944554T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29944554T>C , CM000668.2:g.29944554T>C	GRCh38
NC_000006.11:g.29912331T>C , CM000668.1:g.29912331T>C	GRCh37
NC_000006.10:g.30020310T>C	NCBI36
NG_029217.2:g.7090T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638375.2:c.895+157T>C	ENSP00000492789.2:n.895+157T>C
ENST00000706892.1:n.1906T>C
ENST00000706893.1:c.984T>C	ENSP00000516609.1:p.Ser328=
ENST00000706894.1:c.950T>C	ENSP00000516610.1:p.Leu317Pro
ENST00000706895.1:n.1328T>C
ENST00000706896.1:n.1804T>C
ENST00000706897.1:n.1226T>C
ENST00000706898.1:c.950T>C	ENSP00000516611.1:p.Leu317Pro
ENST00000706899.1:n.1804T>C
ENST00000706900.1:c.866T>C	ENSP00000516617.1:p.Leu289Pro
ENST00000706901.1:c.950T>C	ENSP00000516612.1:p.Leu317Pro
ENST00000706902.1:c.950T>C	ENSP00000516613.1:p.Leu317Pro
ENST00000706903.1:c.950T>C	ENSP00000516614.1:p.Leu317Pro
ENST00000706904.1:c.950T>C	ENSP00000516615.1:p.Leu317Pro
ENST00000706905.1:c.950T>C	ENSP00000516616.1:p.Leu317Pro
ENST00000376809.10:c.950T>C MANE Select	ENSP00000366005.5:p.Leu317Pro
ENST00000638375.1:c.895+157T>C	ENSP00000492789.1:n.895+157T>C
ENST00000376802.2:c.895+157T>C	ENSP00000365998.2:n.895+157T>C
ENST00000376806.9:c.950T>C	ENSP00000366002.5:p.Leu317Pro
ENST00000376809.9:c.950T>C	ENSP00000366005.5:p.Leu317Pro
ENST00000396634.5:c.950T>C	ENSP00000379873.1:p.Leu317Pro
ENST00000461903.1:n.1191T>C
ENST00000479320.5:n.1191T>C
ENST00000495183.5:n.1193T>C
ENST00000496081.5:n.767T>C
NM_002116.7:c.950T>C	NP_002107.3:p.Leu317Pro
NM_002116.8:c.950T>C MANE Select	NP_002107.3:p.Leu317Pro