Canonical Allele Identifier: CA412396293

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359019-C-A
• MyVariant Identifiers: chrX:g.19377137C>A (hg19) ; chrX:g.19359019C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359019C>A , CM000685.2:g.19359019C>A	GRCh38
NC_000023.10:g.19377137C>A , CM000685.1:g.19377137C>A	GRCh37
NC_000023.9:g.19287058C>A	NCBI36
NG_016781.1:g.20127C>A
NG_021184.1:g.161243G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1024C>A	ENSP00000348062.6:p.Leu342Ile
ENST00000379805.4:c.*695C>A	ENSP00000369133.3:n.*695C>A
ENST00000417819.6:c.1087C>A	ENSP00000404616.2:p.Leu363Ile
ENST00000423505.6:c.1117C>A	ENSP00000406473.2:p.Leu373Ile
ENST00000481733.2:n.798C>A
ENST00000696704.1:c.*335C>A	ENSP00000512823.1:n.*335C>A
ENST00000696705.1:c.*458C>A	ENSP00000512824.1:n.*458C>A
ENST00000422285.7:c.1003C>A MANE Select	ENSP00000394382.2:p.Leu335Ile
ENST00000379804.1:c.160C>A	ENSP00000369132.1:p.Leu54Ile
ENST00000379806.9:c.1117C>A	ENSP00000369134.5:p.Leu373Ile
ENST00000422285.6:c.1003C>A	ENSP00000394382.2:p.Leu335Ile
ENST00000478795.1:n.442C>A
ENST00000481733.1:n.431C>A
ENST00000540249.5:c.910C>A	ENSP00000440761.1:p.Leu304Ile
ENST00000545074.5:c.1024C>A	ENSP00000438550.1:p.Leu342Ile
NM_000284.3:c.1003C>A	NP_000275.1:p.Leu335Ile
NM_001173454.1:c.1117C>A	NP_001166925.1:p.Leu373Ile
NM_001173455.1:c.1024C>A	NP_001166926.1:p.Leu342Ile
NM_001173456.1:c.910C>A	NP_001166927.1:p.Leu304Ile
XM_011545531.1:c.1138C>A	XP_011543833.1:p.Leu380Ile
XM_011545532.1:c.1045C>A	XP_011543834.1:p.Leu349Ile
XM_017029574.2:c.1024C>A	XP_016885063.1:p.Leu342Ile
NM_000284.4:c.1003C>A MANE Select	NP_000275.1:p.Leu335Ile
NM_001173454.2:c.1117C>A	NP_001166925.1:p.Leu373Ile
NM_001173455.2:c.1024C>A	NP_001166926.1:p.Leu342Ile
NM_001173456.2:c.910C>A	NP_001166927.1:p.Leu304Ile