Canonical Allele Identifier: CA412396628

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377666T>G (hg19) ; chrX:g.19359548T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359548T>G , CM000685.2:g.19359548T>G	GRCh38
NC_000023.10:g.19377666T>G , CM000685.1:g.19377666T>G	GRCh37
NC_000023.9:g.19287587T>G	NCBI36
NG_016781.1:g.20656T>G
NG_021184.1:g.160714A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1089T>G	ENSP00000348062.6:p.Asp363Glu
ENST00000379805.4:c.*760T>G	ENSP00000369133.3:n.*760T>G
ENST00000417819.6:c.1152T>G	ENSP00000404616.2:p.Asp384Glu
ENST00000423505.6:c.1182T>G	ENSP00000406473.2:p.Asp394Glu
ENST00000481733.2:n.863T>G
ENST00000696704.1:c.*400T>G	ENSP00000512823.1:n.*400T>G
ENST00000696705.1:c.*523T>G	ENSP00000512824.1:n.*523T>G
ENST00000422285.7:c.1068T>G MANE Select	ENSP00000394382.2:p.Asp356Glu
ENST00000379804.1:c.225T>G	ENSP00000369132.1:p.Asp75Glu
ENST00000379806.9:c.1182T>G	ENSP00000369134.5:p.Asp394Glu
ENST00000422285.6:c.1068T>G	ENSP00000394382.2:p.Asp356Glu
ENST00000478795.1:n.507T>G
ENST00000540249.5:c.975T>G	ENSP00000440761.1:p.Asp325Glu
ENST00000545074.5:c.1089T>G	ENSP00000438550.1:p.Asp363Glu
NM_000284.3:c.1068T>G	NP_000275.1:p.Asp356Glu
NM_001173454.1:c.1182T>G	NP_001166925.1:p.Asp394Glu
NM_001173455.1:c.1089T>G	NP_001166926.1:p.Asp363Glu
NM_001173456.1:c.975T>G	NP_001166927.1:p.Asp325Glu
XM_011545531.1:c.1203T>G	XP_011543833.1:p.Asp401Glu
XM_011545532.1:c.1110T>G	XP_011543834.1:p.Asp370Glu
XM_017029574.2:c.1089T>G	XP_016885063.1:p.Asp363Glu
NM_000284.4:c.1068T>G MANE Select	NP_000275.1:p.Asp356Glu
NM_001173454.2:c.1182T>G	NP_001166925.1:p.Asp394Glu
NM_001173455.2:c.1089T>G	NP_001166926.1:p.Asp363Glu
NM_001173456.2:c.975T>G	NP_001166927.1:p.Asp325Glu