Canonical Allele Identifier: CA412396253

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377119C>G (hg19) ; chrX:g.19359001C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359001C>G , CM000685.2:g.19359001C>G	GRCh38
NC_000023.10:g.19377119C>G , CM000685.1:g.19377119C>G	GRCh37
NC_000023.9:g.19287040C>G	NCBI36
NG_016781.1:g.20109C>G
NG_021184.1:g.161261G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1006C>G	ENSP00000348062.6:p.Leu336Val
ENST00000379805.4:c.*677C>G	ENSP00000369133.3:n.*677C>G
ENST00000417819.6:c.1069C>G	ENSP00000404616.2:p.Leu357Val
ENST00000423505.6:c.1099C>G	ENSP00000406473.2:p.Leu367Val
ENST00000481733.2:n.780C>G
ENST00000696704.1:c.*317C>G	ENSP00000512823.1:n.*317C>G
ENST00000696705.1:c.*440C>G	ENSP00000512824.1:n.*440C>G
ENST00000422285.7:c.985C>G MANE Select	ENSP00000394382.2:p.Leu329Val
ENST00000379804.1:c.142C>G	ENSP00000369132.1:p.Leu48Val
ENST00000379806.9:c.1099C>G	ENSP00000369134.5:p.Leu367Val
ENST00000422285.6:c.985C>G	ENSP00000394382.2:p.Leu329Val
ENST00000478795.1:n.424C>G
ENST00000481733.1:n.413C>G
ENST00000540249.5:c.892C>G	ENSP00000440761.1:p.Leu298Val
ENST00000545074.5:c.1006C>G	ENSP00000438550.1:p.Leu336Val
NM_000284.3:c.985C>G	NP_000275.1:p.Leu329Val
NM_001173454.1:c.1099C>G	NP_001166925.1:p.Leu367Val
NM_001173455.1:c.1006C>G	NP_001166926.1:p.Leu336Val
NM_001173456.1:c.892C>G	NP_001166927.1:p.Leu298Val
XM_011545531.1:c.1120C>G	XP_011543833.1:p.Leu374Val
XM_011545532.1:c.1027C>G	XP_011543834.1:p.Leu343Val
XM_017029574.2:c.1006C>G	XP_016885063.1:p.Leu336Val
NM_000284.4:c.985C>G MANE Select	NP_000275.1:p.Leu329Val
NM_001173454.2:c.1099C>G	NP_001166925.1:p.Leu367Val
NM_001173455.2:c.1006C>G	NP_001166926.1:p.Leu336Val
NM_001173456.2:c.892C>G	NP_001166927.1:p.Leu298Val