Canonical Allele Identifier: CA515486068

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373616G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355498G>T , CM000685.2:g.19355498G>T	GRCh38
NC_000023.10:g.19373616G>T , CM000685.1:g.19373616G>T	GRCh37
NC_000023.9:g.19283537G>T	NCBI36
NG_016781.1:g.16606G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.774G>T	ENSP00000348062.6:p.Gly258=
ENST00000379805.4:c.*445G>T	ENSP00000369133.3:n.*445G>T
ENST00000417819.6:c.837G>T	ENSP00000404616.2:p.Gly279=
ENST00000423505.6:c.867G>T	ENSP00000406473.2:p.Gly289=
ENST00000481733.2:n.548G>T
ENST00000696704.1:c.*85G>T	ENSP00000512823.1:n.*85G>T
ENST00000696705.1:c.*208G>T	ENSP00000512824.1:n.*208G>T
ENST00000422285.7:c.753G>T MANE Select	ENSP00000394382.2:p.Gly251=
ENST00000379806.9:c.867G>T	ENSP00000369134.5:p.Gly289=
ENST00000422285.6:c.753G>T	ENSP00000394382.2:p.Gly251=
ENST00000481733.1:n.181G>T
ENST00000540249.5:c.660G>T	ENSP00000440761.1:p.Gly220=
ENST00000545074.5:c.774G>T	ENSP00000438550.1:p.Gly258=
NM_000284.3:c.753G>T	NP_000275.1:p.Gly251=
NM_001173454.1:c.867G>T	NP_001166925.1:p.Gly289=
NM_001173455.1:c.774G>T	NP_001166926.1:p.Gly258=
NM_001173456.1:c.660G>T	NP_001166927.1:p.Gly220=
XM_011545531.1:c.888G>T	XP_011543833.1:p.Gly296=
XM_011545532.1:c.795G>T	XP_011543834.1:p.Gly265=
XM_017029574.2:c.774G>T	XP_016885063.1:p.Gly258=
NM_000284.4:c.753G>T MANE Select	NP_000275.1:p.Gly251=
NM_001173454.2:c.867G>T	NP_001166925.1:p.Gly289=
NM_001173455.2:c.774G>T	NP_001166926.1:p.Gly258=
NM_001173456.2:c.660G>T	NP_001166927.1:p.Gly220=