Canonical Allele Identifier: CA412395159

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375783T>C (hg19) ; chrX:g.19357665T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357665T>C , CM000685.2:g.19357665T>C	GRCh38
NC_000023.10:g.19375783T>C , CM000685.1:g.19375783T>C	GRCh37
NC_000023.9:g.19285704T>C	NCBI36
NG_016781.1:g.18773T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.866T>C	ENSP00000348062.6:p.Met289Thr
ENST00000379805.4:c.*537T>C	ENSP00000369133.3:n.*537T>C
ENST00000417819.6:c.929T>C	ENSP00000404616.2:p.Met310Thr
ENST00000423505.6:c.959T>C	ENSP00000406473.2:p.Met320Thr
ENST00000481733.2:n.640T>C
ENST00000696704.1:c.*177T>C	ENSP00000512823.1:n.*177T>C
ENST00000696705.1:c.*300T>C	ENSP00000512824.1:n.*300T>C
ENST00000422285.7:c.845T>C MANE Select	ENSP00000394382.2:p.Met282Thr
ENST00000379804.1:c.2T>C	ENSP00000369132.1:p.Met1Thr
ENST00000379806.9:c.959T>C	ENSP00000369134.5:p.Met320Thr
ENST00000422285.6:c.845T>C	ENSP00000394382.2:p.Met282Thr
ENST00000478795.1:n.284T>C
ENST00000481733.1:n.273T>C
ENST00000540249.5:c.752T>C	ENSP00000440761.1:p.Met251Thr
ENST00000545074.5:c.866T>C	ENSP00000438550.1:p.Met289Thr
NM_000284.3:c.845T>C	NP_000275.1:p.Met282Thr
NM_001173454.1:c.959T>C	NP_001166925.1:p.Met320Thr
NM_001173455.1:c.866T>C	NP_001166926.1:p.Met289Thr
NM_001173456.1:c.752T>C	NP_001166927.1:p.Met251Thr
XM_011545531.1:c.980T>C	XP_011543833.1:p.Met327Thr
XM_011545532.1:c.887T>C	XP_011543834.1:p.Met296Thr
XM_017029574.2:c.866T>C	XP_016885063.1:p.Met289Thr
NM_000284.4:c.845T>C MANE Select	NP_000275.1:p.Met282Thr
NM_001173454.2:c.959T>C	NP_001166925.1:p.Met320Thr
NM_001173455.2:c.866T>C	NP_001166926.1:p.Met289Thr
NM_001173456.2:c.752T>C	NP_001166927.1:p.Met251Thr