Canonical Allele Identifier: CA412395283

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375834T>C (hg19) ; chrX:g.19357716T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357716T>C , CM000685.2:g.19357716T>C	GRCh38
NC_000023.10:g.19375834T>C , CM000685.1:g.19375834T>C	GRCh37
NC_000023.9:g.19285755T>C	NCBI36
NG_016781.1:g.18824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.917T>C	ENSP00000348062.6:p.Val306Ala
ENST00000379805.4:c.*588T>C	ENSP00000369133.3:n.*588T>C
ENST00000417819.6:c.980T>C	ENSP00000404616.2:p.Val327Ala
ENST00000423505.6:c.1010T>C	ENSP00000406473.2:p.Val337Ala
ENST00000481733.2:n.691T>C
ENST00000696704.1:c.*228T>C	ENSP00000512823.1:n.*228T>C
ENST00000696705.1:c.*351T>C	ENSP00000512824.1:n.*351T>C
ENST00000422285.7:c.896T>C MANE Select	ENSP00000394382.2:p.Val299Ala
ENST00000379804.1:c.53T>C	ENSP00000369132.1:p.Val18Ala
ENST00000379806.9:c.1010T>C	ENSP00000369134.5:p.Val337Ala
ENST00000422285.6:c.896T>C	ENSP00000394382.2:p.Val299Ala
ENST00000478795.1:n.335T>C
ENST00000481733.1:n.324T>C
ENST00000540249.5:c.803T>C	ENSP00000440761.1:p.Val268Ala
ENST00000545074.5:c.917T>C	ENSP00000438550.1:p.Val306Ala
NM_000284.3:c.896T>C	NP_000275.1:p.Val299Ala
NM_001173454.1:c.1010T>C	NP_001166925.1:p.Val337Ala
NM_001173455.1:c.917T>C	NP_001166926.1:p.Val306Ala
NM_001173456.1:c.803T>C	NP_001166927.1:p.Val268Ala
XM_011545531.1:c.1031T>C	XP_011543833.1:p.Val344Ala
XM_011545532.1:c.938T>C	XP_011543834.1:p.Val313Ala
XM_017029574.2:c.917T>C	XP_016885063.1:p.Val306Ala
NM_000284.4:c.896T>C MANE Select	NP_000275.1:p.Val299Ala
NM_001173454.2:c.1010T>C	NP_001166925.1:p.Val337Ala
NM_001173455.2:c.917T>C	NP_001166926.1:p.Val306Ala
NM_001173456.2:c.803T>C	NP_001166927.1:p.Val268Ala