Canonical Allele Identifier: CA412395190

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375795C>T (hg19) ; chrX:g.19357677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357677C>T , CM000685.2:g.19357677C>T	GRCh38
NC_000023.10:g.19375795C>T , CM000685.1:g.19375795C>T	GRCh37
NC_000023.9:g.19285716C>T	NCBI36
NG_016781.1:g.18785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.878C>T	ENSP00000348062.6:p.Thr293Ile
ENST00000379805.4:c.*549C>T	ENSP00000369133.3:n.*549C>T
ENST00000417819.6:c.941C>T	ENSP00000404616.2:p.Thr314Ile
ENST00000423505.6:c.971C>T	ENSP00000406473.2:p.Thr324Ile
ENST00000481733.2:n.652C>T
ENST00000696704.1:c.*189C>T	ENSP00000512823.1:n.*189C>T
ENST00000696705.1:c.*312C>T	ENSP00000512824.1:n.*312C>T
ENST00000422285.7:c.857C>T MANE Select	ENSP00000394382.2:p.Thr286Ile
ENST00000379804.1:c.14C>T	ENSP00000369132.1:p.Thr5Ile
ENST00000379806.9:c.971C>T	ENSP00000369134.5:p.Thr324Ile
ENST00000422285.6:c.857C>T	ENSP00000394382.2:p.Thr286Ile
ENST00000478795.1:n.296C>T
ENST00000481733.1:n.285C>T
ENST00000540249.5:c.764C>T	ENSP00000440761.1:p.Thr255Ile
ENST00000545074.5:c.878C>T	ENSP00000438550.1:p.Thr293Ile
NM_000284.3:c.857C>T	NP_000275.1:p.Thr286Ile
NM_001173454.1:c.971C>T	NP_001166925.1:p.Thr324Ile
NM_001173455.1:c.878C>T	NP_001166926.1:p.Thr293Ile
NM_001173456.1:c.764C>T	NP_001166927.1:p.Thr255Ile
XM_011545531.1:c.992C>T	XP_011543833.1:p.Thr331Ile
XM_011545532.1:c.899C>T	XP_011543834.1:p.Thr300Ile
XM_017029574.2:c.878C>T	XP_016885063.1:p.Thr293Ile
NM_000284.4:c.857C>T MANE Select	NP_000275.1:p.Thr286Ile
NM_001173454.2:c.971C>T	NP_001166925.1:p.Thr324Ile
NM_001173455.2:c.878C>T	NP_001166926.1:p.Thr293Ile
NM_001173456.2:c.764C>T	NP_001166927.1:p.Thr255Ile