Canonical Allele Identifier: CA412394679

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373611C>G (hg19) ; chrX:g.19355493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355493C>G , CM000685.2:g.19355493C>G	GRCh38
NC_000023.10:g.19373611C>G , CM000685.1:g.19373611C>G	GRCh37
NC_000023.9:g.19283532C>G	NCBI36
NG_016781.1:g.16601C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.769C>G	ENSP00000348062.6:p.Pro257Ala
ENST00000379805.4:c.*440C>G	ENSP00000369133.3:n.*440C>G
ENST00000417819.6:c.832C>G	ENSP00000404616.2:p.Pro278Ala
ENST00000423505.6:c.862C>G	ENSP00000406473.2:p.Pro288Ala
ENST00000481733.2:n.543C>G
ENST00000696704.1:c.*80C>G	ENSP00000512823.1:n.*80C>G
ENST00000696705.1:c.*203C>G	ENSP00000512824.1:n.*203C>G
ENST00000422285.7:c.748C>G MANE Select	ENSP00000394382.2:p.Pro250Ala
ENST00000379806.9:c.862C>G	ENSP00000369134.5:p.Pro288Ala
ENST00000422285.6:c.748C>G	ENSP00000394382.2:p.Pro250Ala
ENST00000481733.1:n.176C>G
ENST00000540249.5:c.655C>G	ENSP00000440761.1:p.Pro219Ala
ENST00000545074.5:c.769C>G	ENSP00000438550.1:p.Pro257Ala
NM_000284.3:c.748C>G	NP_000275.1:p.Pro250Ala
NM_001173454.1:c.862C>G	NP_001166925.1:p.Pro288Ala
NM_001173455.1:c.769C>G	NP_001166926.1:p.Pro257Ala
NM_001173456.1:c.655C>G	NP_001166927.1:p.Pro219Ala
XM_011545531.1:c.883C>G	XP_011543833.1:p.Pro295Ala
XM_011545532.1:c.790C>G	XP_011543834.1:p.Pro264Ala
XM_017029574.2:c.769C>G	XP_016885063.1:p.Pro257Ala
NM_000284.4:c.748C>G MANE Select	NP_000275.1:p.Pro250Ala
NM_001173454.2:c.862C>G	NP_001166925.1:p.Pro288Ala
NM_001173455.2:c.769C>G	NP_001166926.1:p.Pro257Ala
NM_001173456.2:c.655C>G	NP_001166927.1:p.Pro219Ala