Canonical Allele Identifier: CA515486387

Gene: PDHA1

Linked Data

• dbSNP Id: rs1602231668
• MyVariant Identifiers: chrX:g.19377130G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359012G>T , CM000685.2:g.19359012G>T	GRCh38
NC_000023.10:g.19377130G>T , CM000685.1:g.19377130G>T	GRCh37
NC_000023.9:g.19287051G>T	NCBI36
NG_016781.1:g.20120G>T
NG_021184.1:g.161250C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1017G>T	ENSP00000348062.6:p.Val339=
ENST00000379805.4:c.*688G>T	ENSP00000369133.3:n.*688G>T
ENST00000417819.6:c.1080G>T	ENSP00000404616.2:p.Val360=
ENST00000423505.6:c.1110G>T	ENSP00000406473.2:p.Val370=
ENST00000481733.2:n.791G>T
ENST00000696704.1:c.*328G>T	ENSP00000512823.1:n.*328G>T
ENST00000696705.1:c.*451G>T	ENSP00000512824.1:n.*451G>T
ENST00000422285.7:c.996G>T MANE Select	ENSP00000394382.2:p.Val332=
ENST00000379804.1:c.153G>T	ENSP00000369132.1:p.Val51=
ENST00000379806.9:c.1110G>T	ENSP00000369134.5:p.Val370=
ENST00000422285.6:c.996G>T	ENSP00000394382.2:p.Val332=
ENST00000478795.1:n.435G>T
ENST00000481733.1:n.424G>T
ENST00000540249.5:c.903G>T	ENSP00000440761.1:p.Val301=
ENST00000545074.5:c.1017G>T	ENSP00000438550.1:p.Val339=
NM_000284.3:c.996G>T	NP_000275.1:p.Val332=
NM_001173454.1:c.1110G>T	NP_001166925.1:p.Val370=
NM_001173455.1:c.1017G>T	NP_001166926.1:p.Val339=
NM_001173456.1:c.903G>T	NP_001166927.1:p.Val301=
XM_011545531.1:c.1131G>T	XP_011543833.1:p.Val377=
XM_011545532.1:c.1038G>T	XP_011543834.1:p.Val346=
XM_017029574.2:c.1017G>T	XP_016885063.1:p.Val339=
NM_000284.4:c.996G>T MANE Select	NP_000275.1:p.Val332=
NM_001173454.2:c.1110G>T	NP_001166925.1:p.Val370=
NM_001173455.2:c.1017G>T	NP_001166926.1:p.Val339=
NM_001173456.2:c.903G>T	NP_001166927.1:p.Val301=