Canonical Allele Identifier: CA412396579

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063245666
• gnomAD v3: X-19359538-C-T
• gnomAD v4: X-19359538-C-T
• MyVariant Identifiers: chrX:g.19377656C>T (hg19) ; chrX:g.19359538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359538C>T , CM000685.2:g.19359538C>T	GRCh38
NC_000023.10:g.19377656C>T , CM000685.1:g.19377656C>T	GRCh37
NC_000023.9:g.19287577C>T	NCBI36
NG_016781.1:g.20646C>T
NG_021184.1:g.160724G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1079C>T	ENSP00000348062.6:p.Ala360Val
ENST00000379805.4:c.*750C>T	ENSP00000369133.3:n.*750C>T
ENST00000417819.6:c.1142C>T	ENSP00000404616.2:p.Ala381Val
ENST00000423505.6:c.1172C>T	ENSP00000406473.2:p.Ala391Val
ENST00000481733.2:n.853C>T
ENST00000696704.1:c.*390C>T	ENSP00000512823.1:n.*390C>T
ENST00000696705.1:c.*513C>T	ENSP00000512824.1:n.*513C>T
ENST00000422285.7:c.1058C>T MANE Select	ENSP00000394382.2:p.Ala353Val
ENST00000379804.1:c.215C>T	ENSP00000369132.1:p.Ala72Val
ENST00000379806.9:c.1172C>T	ENSP00000369134.5:p.Ala391Val
ENST00000422285.6:c.1058C>T	ENSP00000394382.2:p.Ala353Val
ENST00000478795.1:n.497C>T
ENST00000540249.5:c.965C>T	ENSP00000440761.1:p.Ala322Val
ENST00000545074.5:c.1079C>T	ENSP00000438550.1:p.Ala360Val
NM_000284.3:c.1058C>T	NP_000275.1:p.Ala353Val
NM_001173454.1:c.1172C>T	NP_001166925.1:p.Ala391Val
NM_001173455.1:c.1079C>T	NP_001166926.1:p.Ala360Val
NM_001173456.1:c.965C>T	NP_001166927.1:p.Ala322Val
XM_011545531.1:c.1193C>T	XP_011543833.1:p.Ala398Val
XM_011545532.1:c.1100C>T	XP_011543834.1:p.Ala367Val
XM_017029574.2:c.1079C>T	XP_016885063.1:p.Ala360Val
NM_000284.4:c.1058C>T MANE Select	NP_000275.1:p.Ala353Val
NM_001173454.2:c.1172C>T	NP_001166925.1:p.Ala391Val
NM_001173455.2:c.1079C>T	NP_001166926.1:p.Ala360Val
NM_001173456.2:c.965C>T	NP_001166927.1:p.Ala322Val