Canonical Allele Identifier: CA412396294

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377137C>G (hg19) ; chrX:g.19359019C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1024C>G	ENSP00000348062.6:p.Leu342Val
ENST00000379805.4:c.*695C>G	ENSP00000369133.3:n.*695C>G
ENST00000417819.6:c.1087C>G	ENSP00000404616.2:p.Leu363Val
ENST00000423505.6:c.1117C>G	ENSP00000406473.2:p.Leu373Val
ENST00000481733.2:n.798C>G
ENST00000696704.1:c.*335C>G	ENSP00000512823.1:n.*335C>G
ENST00000696705.1:c.*458C>G	ENSP00000512824.1:n.*458C>G
ENST00000422285.7:c.1003C>G MANE Select	ENSP00000394382.2:p.Leu335Val
ENST00000379804.1:c.160C>G	ENSP00000369132.1:p.Leu54Val
ENST00000379806.9:c.1117C>G	ENSP00000369134.5:p.Leu373Val
ENST00000422285.6:c.1003C>G	ENSP00000394382.2:p.Leu335Val
ENST00000478795.1:n.442C>G
ENST00000481733.1:n.431C>G
ENST00000540249.5:c.910C>G	ENSP00000440761.1:p.Leu304Val
ENST00000545074.5:c.1024C>G	ENSP00000438550.1:p.Leu342Val
NM_000284.3:c.1003C>G	NP_000275.1:p.Leu335Val
NM_001173454.1:c.1117C>G	NP_001166925.1:p.Leu373Val
NM_001173455.1:c.1024C>G	NP_001166926.1:p.Leu342Val
NM_001173456.1:c.910C>G	NP_001166927.1:p.Leu304Val
XM_011545531.1:c.1138C>G	XP_011543833.1:p.Leu380Val
XM_011545532.1:c.1045C>G	XP_011543834.1:p.Leu349Val
XM_017029574.2:c.1024C>G	XP_016885063.1:p.Leu342Val
NM_000284.4:c.1003C>G MANE Select	NP_000275.1:p.Leu335Val
NM_001173454.2:c.1117C>G	NP_001166925.1:p.Leu373Val
NM_001173455.2:c.1024C>G	NP_001166926.1:p.Leu342Val
NM_001173456.2:c.910C>G	NP_001166927.1:p.Leu304Val