Canonical Allele Identifier: CA515485984

Gene: PDHA1

Linked Data

• COSMIC: COSM4618914 ; COSM4618915 ; COSM4618916
• MyVariant Identifiers: chrX:g.19373469C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355351C>G , CM000685.2:g.19355351C>G	GRCh38
NC_000023.10:g.19373469C>G , CM000685.1:g.19373469C>G	GRCh37
NC_000023.9:g.19283390C>G	NCBI36
NG_016781.1:g.16459C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.627C>G	ENSP00000348062.6:p.Gly209=
ENST00000379805.4:c.*298C>G	ENSP00000369133.3:n.*298C>G
ENST00000417819.6:c.690C>G	ENSP00000404616.2:p.Gly230=
ENST00000423505.6:c.720C>G	ENSP00000406473.2:p.Gly240=
ENST00000481733.2:n.401C>G
ENST00000696704.1:c.421C>G	ENSP00000512823.1:p.Pro141Ala
ENST00000696705.1:c.*61C>G	ENSP00000512824.1:n.*61C>G
ENST00000422285.7:c.606C>G MANE Select	ENSP00000394382.2:p.Gly202=
ENST00000379806.9:c.720C>G	ENSP00000369134.5:p.Gly240=
ENST00000422285.6:c.606C>G	ENSP00000394382.2:p.Gly202=
ENST00000479146.1:n.441C>G
ENST00000481733.1:n.34C>G
ENST00000540249.5:c.513C>G	ENSP00000440761.1:p.Gly171=
ENST00000545074.5:c.627C>G	ENSP00000438550.1:p.Gly209=
NM_000284.3:c.606C>G	NP_000275.1:p.Gly202=
NM_001173454.1:c.720C>G	NP_001166925.1:p.Gly240=
NM_001173455.1:c.627C>G	NP_001166926.1:p.Gly209=
NM_001173456.1:c.513C>G	NP_001166927.1:p.Gly171=
XM_011545531.1:c.741C>G	XP_011543833.1:p.Gly247=
XM_011545532.1:c.648C>G	XP_011543834.1:p.Gly216=
XM_017029574.2:c.627C>G	XP_016885063.1:p.Gly209=
NM_000284.4:c.606C>G MANE Select	NP_000275.1:p.Gly202=
NM_001173454.2:c.720C>G	NP_001166925.1:p.Gly240=
NM_001173455.2:c.627C>G	NP_001166926.1:p.Gly209=
NM_001173456.2:c.513C>G	NP_001166927.1:p.Gly171=