Canonical Allele Identifier: CA412395153

Gene: PDHA1

Linked Data

• gnomAD v4: X-19357661-C-G
• MyVariant Identifiers: chrX:g.19375779C>G (hg19) ; chrX:g.19357661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357661C>G , CM000685.2:g.19357661C>G	GRCh38
NC_000023.10:g.19375779C>G , CM000685.1:g.19375779C>G	GRCh37
NC_000023.9:g.19285700C>G	NCBI36
NG_016781.1:g.18769C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.862C>G	ENSP00000348062.6:p.Leu288Val
ENST00000379805.4:c.*533C>G	ENSP00000369133.3:n.*533C>G
ENST00000417819.6:c.925C>G	ENSP00000404616.2:p.Leu309Val
ENST00000423505.6:c.955C>G	ENSP00000406473.2:p.Leu319Val
ENST00000481733.2:n.636C>G
ENST00000696704.1:c.*173C>G	ENSP00000512823.1:n.*173C>G
ENST00000696705.1:c.*296C>G	ENSP00000512824.1:n.*296C>G
ENST00000422285.7:c.841C>G MANE Select	ENSP00000394382.2:p.Leu281Val
ENST00000379804.1:c.-3C>G	ENSP00000369132.1:n.-3C>G
ENST00000379806.9:c.955C>G	ENSP00000369134.5:p.Leu319Val
ENST00000422285.6:c.841C>G	ENSP00000394382.2:p.Leu281Val
ENST00000478795.1:n.280C>G
ENST00000481733.1:n.269C>G
ENST00000540249.5:c.748C>G	ENSP00000440761.1:p.Leu250Val
ENST00000545074.5:c.862C>G	ENSP00000438550.1:p.Leu288Val
NM_000284.3:c.841C>G	NP_000275.1:p.Leu281Val
NM_001173454.1:c.955C>G	NP_001166925.1:p.Leu319Val
NM_001173455.1:c.862C>G	NP_001166926.1:p.Leu288Val
NM_001173456.1:c.748C>G	NP_001166927.1:p.Leu250Val
XM_011545531.1:c.976C>G	XP_011543833.1:p.Leu326Val
XM_011545532.1:c.883C>G	XP_011543834.1:p.Leu295Val
XM_017029574.2:c.862C>G	XP_016885063.1:p.Leu288Val
NM_000284.4:c.841C>G MANE Select	NP_000275.1:p.Leu281Val
NM_001173454.2:c.955C>G	NP_001166925.1:p.Leu319Val
NM_001173455.2:c.862C>G	NP_001166926.1:p.Leu288Val
NM_001173456.2:c.748C>G	NP_001166927.1:p.Leu250Val