Canonical Allele Identifier: CA515486020

Gene: PDHA1

Linked Data

• dbSNP Id: rs1602227580
• MyVariant Identifiers: chrX:g.19373547A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355429A>C , CM000685.2:g.19355429A>C	GRCh38
NC_000023.10:g.19373547A>C , CM000685.1:g.19373547A>C	GRCh37
NC_000023.9:g.19283468A>C	NCBI36
NG_016781.1:g.16537A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.705A>C	ENSP00000348062.6:p.Gly235=
ENST00000379805.4:c.*376A>C	ENSP00000369133.3:n.*376A>C
ENST00000417819.6:c.768A>C	ENSP00000404616.2:p.Gly256=
ENST00000423505.6:c.798A>C	ENSP00000406473.2:p.Gly266=
ENST00000481733.2:n.479A>C
ENST00000696704.1:c.*16A>C	ENSP00000512823.1:n.*16A>C
ENST00000696705.1:c.*139A>C	ENSP00000512824.1:n.*139A>C
ENST00000422285.7:c.684A>C MANE Select	ENSP00000394382.2:p.Gly228=
ENST00000379806.9:c.798A>C	ENSP00000369134.5:p.Gly266=
ENST00000422285.6:c.684A>C	ENSP00000394382.2:p.Gly228=
ENST00000479146.1:n.519A>C
ENST00000481733.1:n.112A>C
ENST00000540249.5:c.591A>C	ENSP00000440761.1:p.Gly197=
ENST00000545074.5:c.705A>C	ENSP00000438550.1:p.Gly235=
NM_000284.3:c.684A>C	NP_000275.1:p.Gly228=
NM_001173454.1:c.798A>C	NP_001166925.1:p.Gly266=
NM_001173455.1:c.705A>C	NP_001166926.1:p.Gly235=
NM_001173456.1:c.591A>C	NP_001166927.1:p.Gly197=
XM_011545531.1:c.819A>C	XP_011543833.1:p.Gly273=
XM_011545532.1:c.726A>C	XP_011543834.1:p.Gly242=
XM_017029574.2:c.705A>C	XP_016885063.1:p.Gly235=
NM_000284.4:c.684A>C MANE Select	NP_000275.1:p.Gly228=
NM_001173454.2:c.798A>C	NP_001166925.1:p.Gly266=
NM_001173455.2:c.705A>C	NP_001166926.1:p.Gly235=
NM_001173456.2:c.591A>C	NP_001166927.1:p.Gly197=