Canonical Allele Identifier: CA412396161

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377080C>A (hg19) ; chrX:g.19358962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358962C>A , CM000685.2:g.19358962C>A	GRCh38
NC_000023.10:g.19377080C>A , CM000685.1:g.19377080C>A	GRCh37
NC_000023.9:g.19287001C>A	NCBI36
NG_016781.1:g.20070C>A
NG_021184.1:g.161300G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.967C>A	ENSP00000348062.6:p.Pro323Thr
ENST00000379805.4:c.*638C>A	ENSP00000369133.3:n.*638C>A
ENST00000417819.6:c.1030C>A	ENSP00000404616.2:p.Pro344Thr
ENST00000423505.6:c.1060C>A	ENSP00000406473.2:p.Pro354Thr
ENST00000481733.2:n.741C>A
ENST00000696704.1:c.*278C>A	ENSP00000512823.1:n.*278C>A
ENST00000696705.1:c.*401C>A	ENSP00000512824.1:n.*401C>A
ENST00000422285.7:c.946C>A MANE Select	ENSP00000394382.2:p.Pro316Thr
ENST00000379804.1:c.103C>A	ENSP00000369132.1:p.Pro35Thr
ENST00000379806.9:c.1060C>A	ENSP00000369134.5:p.Pro354Thr
ENST00000422285.6:c.946C>A	ENSP00000394382.2:p.Pro316Thr
ENST00000478795.1:n.385C>A
ENST00000481733.1:n.374C>A
ENST00000540249.5:c.853C>A	ENSP00000440761.1:p.Pro285Thr
ENST00000545074.5:c.967C>A	ENSP00000438550.1:p.Pro323Thr
NM_000284.3:c.946C>A	NP_000275.1:p.Pro316Thr
NM_001173454.1:c.1060C>A	NP_001166925.1:p.Pro354Thr
NM_001173455.1:c.967C>A	NP_001166926.1:p.Pro323Thr
NM_001173456.1:c.853C>A	NP_001166927.1:p.Pro285Thr
XM_011545531.1:c.1081C>A	XP_011543833.1:p.Pro361Thr
XM_011545532.1:c.988C>A	XP_011543834.1:p.Pro330Thr
XM_017029574.2:c.967C>A	XP_016885063.1:p.Pro323Thr
NM_000284.4:c.946C>A MANE Select	NP_000275.1:p.Pro316Thr
NM_001173454.2:c.1060C>A	NP_001166925.1:p.Pro354Thr
NM_001173455.2:c.967C>A	NP_001166926.1:p.Pro323Thr
NM_001173456.2:c.853C>A	NP_001166927.1:p.Pro285Thr