Canonical Allele Identifier: CA412396136

Gene: PDHA1

Linked Data

• gnomAD v4: X-19358952-T-A
• MyVariant Identifiers: chrX:g.19377070T>A (hg19) ; chrX:g.19358952T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358952T>A , CM000685.2:g.19358952T>A	GRCh38
NC_000023.10:g.19377070T>A , CM000685.1:g.19377070T>A	GRCh37
NC_000023.9:g.19286991T>A	NCBI36
NG_016781.1:g.20060T>A
NG_021184.1:g.161310A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.957T>A	ENSP00000348062.6:p.Ser319Arg
ENST00000379805.4:c.*628T>A	ENSP00000369133.3:n.*628T>A
ENST00000417819.6:c.1020T>A	ENSP00000404616.2:p.Ser340Arg
ENST00000423505.6:c.1050T>A	ENSP00000406473.2:p.Ser350Arg
ENST00000481733.2:n.731T>A
ENST00000696704.1:c.*268T>A	ENSP00000512823.1:n.*268T>A
ENST00000696705.1:c.*391T>A	ENSP00000512824.1:n.*391T>A
ENST00000422285.7:c.936T>A MANE Select	ENSP00000394382.2:p.Ser312Arg
ENST00000379804.1:c.93T>A	ENSP00000369132.1:p.Ser31Arg
ENST00000379806.9:c.1050T>A	ENSP00000369134.5:p.Ser350Arg
ENST00000422285.6:c.936T>A	ENSP00000394382.2:p.Ser312Arg
ENST00000478795.1:n.375T>A
ENST00000481733.1:n.364T>A
ENST00000540249.5:c.843T>A	ENSP00000440761.1:p.Ser281Arg
ENST00000545074.5:c.957T>A	ENSP00000438550.1:p.Ser319Arg
NM_000284.3:c.936T>A	NP_000275.1:p.Ser312Arg
NM_001173454.1:c.1050T>A	NP_001166925.1:p.Ser350Arg
NM_001173455.1:c.957T>A	NP_001166926.1:p.Ser319Arg
NM_001173456.1:c.843T>A	NP_001166927.1:p.Ser281Arg
XM_011545531.1:c.1071T>A	XP_011543833.1:p.Ser357Arg
XM_011545532.1:c.978T>A	XP_011543834.1:p.Ser326Arg
XM_017029574.2:c.957T>A	XP_016885063.1:p.Ser319Arg
NM_000284.4:c.936T>A MANE Select	NP_000275.1:p.Ser312Arg
NM_001173454.2:c.1050T>A	NP_001166925.1:p.Ser350Arg
NM_001173455.2:c.957T>A	NP_001166926.1:p.Ser319Arg
NM_001173456.2:c.843T>A	NP_001166927.1:p.Ser281Arg