Canonical Allele Identifier: CA412394806

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373847T>C (hg19) ; chrX:g.19355729T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355729T>C , CM000685.2:g.19355729T>C	GRCh38
NC_000023.10:g.19373847T>C , CM000685.1:g.19373847T>C	GRCh37
NC_000023.9:g.19283768T>C	NCBI36
NG_016781.1:g.16837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.824T>C	ENSP00000348062.6:p.Phe275Ser
ENST00000379805.4:c.*495T>C	ENSP00000369133.3:n.*495T>C
ENST00000417819.6:c.887T>C	ENSP00000404616.2:p.Phe296Ser
ENST00000423505.6:c.917T>C	ENSP00000406473.2:p.Phe306Ser
ENST00000481733.2:n.598T>C
ENST00000696704.1:c.*135T>C	ENSP00000512823.1:n.*135T>C
ENST00000696705.1:c.*258T>C	ENSP00000512824.1:n.*258T>C
ENST00000422285.7:c.803T>C MANE Select	ENSP00000394382.2:p.Phe268Ser
ENST00000379804.1:c.-41T>C	ENSP00000369132.1:n.-41T>C
ENST00000379806.9:c.917T>C	ENSP00000369134.5:p.Phe306Ser
ENST00000422285.6:c.803T>C	ENSP00000394382.2:p.Phe268Ser
ENST00000481733.1:n.231T>C
ENST00000540249.5:c.710T>C	ENSP00000440761.1:p.Phe237Ser
ENST00000545074.5:c.824T>C	ENSP00000438550.1:p.Phe275Ser
NM_000284.3:c.803T>C	NP_000275.1:p.Phe268Ser
NM_001173454.1:c.917T>C	NP_001166925.1:p.Phe306Ser
NM_001173455.1:c.824T>C	NP_001166926.1:p.Phe275Ser
NM_001173456.1:c.710T>C	NP_001166927.1:p.Phe237Ser
XM_011545531.1:c.938T>C	XP_011543833.1:p.Phe313Ser
XM_011545532.1:c.845T>C	XP_011543834.1:p.Phe282Ser
XM_017029574.2:c.824T>C	XP_016885063.1:p.Phe275Ser
NM_000284.4:c.803T>C MANE Select	NP_000275.1:p.Phe268Ser
NM_001173454.2:c.917T>C	NP_001166925.1:p.Phe306Ser
NM_001173455.2:c.824T>C	NP_001166926.1:p.Phe275Ser
NM_001173456.2:c.710T>C	NP_001166927.1:p.Phe237Ser