Canonical Allele Identifier: CA412395162

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375784G>A (hg19) ; chrX:g.19357666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357666G>A , CM000685.2:g.19357666G>A	GRCh38
NC_000023.10:g.19375784G>A , CM000685.1:g.19375784G>A	GRCh37
NC_000023.9:g.19285705G>A	NCBI36
NG_016781.1:g.18774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.867G>A	ENSP00000348062.6:p.Met289Ile
ENST00000379805.4:c.*538G>A	ENSP00000369133.3:n.*538G>A
ENST00000417819.6:c.930G>A	ENSP00000404616.2:p.Met310Ile
ENST00000423505.6:c.960G>A	ENSP00000406473.2:p.Met320Ile
ENST00000481733.2:n.641G>A
ENST00000696704.1:c.*178G>A	ENSP00000512823.1:n.*178G>A
ENST00000696705.1:c.*301G>A	ENSP00000512824.1:n.*301G>A
ENST00000422285.7:c.846G>A MANE Select	ENSP00000394382.2:p.Met282Ile
ENST00000379804.1:c.3G>A	ENSP00000369132.1:p.Met1Ile
ENST00000379806.9:c.960G>A	ENSP00000369134.5:p.Met320Ile
ENST00000422285.6:c.846G>A	ENSP00000394382.2:p.Met282Ile
ENST00000478795.1:n.285G>A
ENST00000481733.1:n.274G>A
ENST00000540249.5:c.753G>A	ENSP00000440761.1:p.Met251Ile
ENST00000545074.5:c.867G>A	ENSP00000438550.1:p.Met289Ile
NM_000284.3:c.846G>A	NP_000275.1:p.Met282Ile
NM_001173454.1:c.960G>A	NP_001166925.1:p.Met320Ile
NM_001173455.1:c.867G>A	NP_001166926.1:p.Met289Ile
NM_001173456.1:c.753G>A	NP_001166927.1:p.Met251Ile
XM_011545531.1:c.981G>A	XP_011543833.1:p.Met327Ile
XM_011545532.1:c.888G>A	XP_011543834.1:p.Met296Ile
XM_017029574.2:c.867G>A	XP_016885063.1:p.Met289Ile
NM_000284.4:c.846G>A MANE Select	NP_000275.1:p.Met282Ile
NM_001173454.2:c.960G>A	NP_001166925.1:p.Met320Ile
NM_001173455.2:c.867G>A	NP_001166926.1:p.Met289Ile
NM_001173456.2:c.753G>A	NP_001166927.1:p.Met251Ile