Canonical Allele Identifier: CA412396242

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377114G>T (hg19) ; chrX:g.19358996G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358996G>T , CM000685.2:g.19358996G>T	GRCh38
NC_000023.10:g.19377114G>T , CM000685.1:g.19377114G>T	GRCh37
NC_000023.9:g.19287035G>T	NCBI36
NG_016781.1:g.20104G>T
NG_021184.1:g.161266C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1001G>T	ENSP00000348062.6:p.Ser334Ile
ENST00000379805.4:c.*672G>T	ENSP00000369133.3:n.*672G>T
ENST00000417819.6:c.1064G>T	ENSP00000404616.2:p.Ser355Ile
ENST00000423505.6:c.1094G>T	ENSP00000406473.2:p.Ser365Ile
ENST00000481733.2:n.775G>T
ENST00000696704.1:c.*312G>T	ENSP00000512823.1:n.*312G>T
ENST00000696705.1:c.*435G>T	ENSP00000512824.1:n.*435G>T
ENST00000422285.7:c.980G>T MANE Select	ENSP00000394382.2:p.Ser327Ile
ENST00000379804.1:c.137G>T	ENSP00000369132.1:p.Ser46Ile
ENST00000379806.9:c.1094G>T	ENSP00000369134.5:p.Ser365Ile
ENST00000422285.6:c.980G>T	ENSP00000394382.2:p.Ser327Ile
ENST00000478795.1:n.419G>T
ENST00000481733.1:n.408G>T
ENST00000540249.5:c.887G>T	ENSP00000440761.1:p.Ser296Ile
ENST00000545074.5:c.1001G>T	ENSP00000438550.1:p.Ser334Ile
NM_000284.3:c.980G>T	NP_000275.1:p.Ser327Ile
NM_001173454.1:c.1094G>T	NP_001166925.1:p.Ser365Ile
NM_001173455.1:c.1001G>T	NP_001166926.1:p.Ser334Ile
NM_001173456.1:c.887G>T	NP_001166927.1:p.Ser296Ile
XM_011545531.1:c.1115G>T	XP_011543833.1:p.Ser372Ile
XM_011545532.1:c.1022G>T	XP_011543834.1:p.Ser341Ile
XM_017029574.2:c.1001G>T	XP_016885063.1:p.Ser334Ile
NM_000284.4:c.980G>T MANE Select	NP_000275.1:p.Ser327Ile
NM_001173454.2:c.1094G>T	NP_001166925.1:p.Ser365Ile
NM_001173455.2:c.1001G>T	NP_001166926.1:p.Ser334Ile
NM_001173456.2:c.887G>T	NP_001166927.1:p.Ser296Ile