Canonical Allele Identifier: CA412394689

Gene: PDHA1

Linked Data

• gnomAD v4: X-19355497-G-C
• MyVariant Identifiers: chrX:g.19373615G>C (hg19) ; chrX:g.19355497G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355497G>C , CM000685.2:g.19355497G>C	GRCh38
NC_000023.10:g.19373615G>C , CM000685.1:g.19373615G>C	GRCh37
NC_000023.9:g.19283536G>C	NCBI36
NG_016781.1:g.16605G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.773G>C	ENSP00000348062.6:p.Gly258Ala
ENST00000379805.4:c.*444G>C	ENSP00000369133.3:n.*444G>C
ENST00000417819.6:c.836G>C	ENSP00000404616.2:p.Gly279Ala
ENST00000423505.6:c.866G>C	ENSP00000406473.2:p.Gly289Ala
ENST00000481733.2:n.547G>C
ENST00000696704.1:c.*84G>C	ENSP00000512823.1:n.*84G>C
ENST00000696705.1:c.*207G>C	ENSP00000512824.1:n.*207G>C
ENST00000422285.7:c.752G>C MANE Select	ENSP00000394382.2:p.Gly251Ala
ENST00000379806.9:c.866G>C	ENSP00000369134.5:p.Gly289Ala
ENST00000422285.6:c.752G>C	ENSP00000394382.2:p.Gly251Ala
ENST00000481733.1:n.180G>C
ENST00000540249.5:c.659G>C	ENSP00000440761.1:p.Gly220Ala
ENST00000545074.5:c.773G>C	ENSP00000438550.1:p.Gly258Ala
NM_000284.3:c.752G>C	NP_000275.1:p.Gly251Ala
NM_001173454.1:c.866G>C	NP_001166925.1:p.Gly289Ala
NM_001173455.1:c.773G>C	NP_001166926.1:p.Gly258Ala
NM_001173456.1:c.659G>C	NP_001166927.1:p.Gly220Ala
XM_011545531.1:c.887G>C	XP_011543833.1:p.Gly296Ala
XM_011545532.1:c.794G>C	XP_011543834.1:p.Gly265Ala
XM_017029574.2:c.773G>C	XP_016885063.1:p.Gly258Ala
NM_000284.4:c.752G>C MANE Select	NP_000275.1:p.Gly251Ala
NM_001173454.2:c.866G>C	NP_001166925.1:p.Gly289Ala
NM_001173455.2:c.773G>C	NP_001166926.1:p.Gly258Ala
NM_001173456.2:c.659G>C	NP_001166927.1:p.Gly220Ala