Canonical Allele Identifier: CA515486136

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375772G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357654G>C , CM000685.2:g.19357654G>C	GRCh38
NC_000023.10:g.19375772G>C , CM000685.1:g.19375772G>C	GRCh37
NC_000023.9:g.19285693G>C	NCBI36
NG_016781.1:g.18762G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.855G>C	ENSP00000348062.6:p.Gly285=
ENST00000379805.4:c.*526G>C	ENSP00000369133.3:n.*526G>C
ENST00000417819.6:c.918G>C	ENSP00000404616.2:p.Gly306=
ENST00000423505.6:c.948G>C	ENSP00000406473.2:p.Gly316=
ENST00000481733.2:n.629G>C
ENST00000696704.1:c.*166G>C	ENSP00000512823.1:n.*166G>C
ENST00000696705.1:c.*289G>C	ENSP00000512824.1:n.*289G>C
ENST00000422285.7:c.834G>C MANE Select	ENSP00000394382.2:p.Gly278=
ENST00000379804.1:c.-10G>C	ENSP00000369132.1:n.-10G>C
ENST00000379806.9:c.948G>C	ENSP00000369134.5:p.Gly316=
ENST00000422285.6:c.834G>C	ENSP00000394382.2:p.Gly278=
ENST00000478795.1:n.273G>C
ENST00000481733.1:n.262G>C
ENST00000540249.5:c.741G>C	ENSP00000440761.1:p.Gly247=
ENST00000545074.5:c.855G>C	ENSP00000438550.1:p.Gly285=
NM_000284.3:c.834G>C	NP_000275.1:p.Gly278=
NM_001173454.1:c.948G>C	NP_001166925.1:p.Gly316=
NM_001173455.1:c.855G>C	NP_001166926.1:p.Gly285=
NM_001173456.1:c.741G>C	NP_001166927.1:p.Gly247=
XM_011545531.1:c.969G>C	XP_011543833.1:p.Gly323=
XM_011545532.1:c.876G>C	XP_011543834.1:p.Gly292=
XM_017029574.2:c.855G>C	XP_016885063.1:p.Gly285=
NM_000284.4:c.834G>C MANE Select	NP_000275.1:p.Gly278=
NM_001173454.2:c.948G>C	NP_001166925.1:p.Gly316=
NM_001173455.2:c.855G>C	NP_001166926.1:p.Gly285=
NM_001173456.2:c.741G>C	NP_001166927.1:p.Gly247=