Canonical Allele Identifier: CA412396132

Gene: PDHA1

Linked Data

• gnomAD v4: X-19358950-A-G
• MyVariant Identifiers: chrX:g.19377068A>G (hg19) ; chrX:g.19358950A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358950A>G , CM000685.2:g.19358950A>G	GRCh38
NC_000023.10:g.19377068A>G , CM000685.1:g.19377068A>G	GRCh37
NC_000023.9:g.19286989A>G	NCBI36
NG_016781.1:g.20058A>G
NG_021184.1:g.161312T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.955A>G	ENSP00000348062.6:p.Ser319Gly
ENST00000379805.4:c.*626A>G	ENSP00000369133.3:n.*626A>G
ENST00000417819.6:c.1018A>G	ENSP00000404616.2:p.Ser340Gly
ENST00000423505.6:c.1048A>G	ENSP00000406473.2:p.Ser350Gly
ENST00000481733.2:n.729A>G
ENST00000696704.1:c.*266A>G	ENSP00000512823.1:n.*266A>G
ENST00000696705.1:c.*389A>G	ENSP00000512824.1:n.*389A>G
ENST00000422285.7:c.934A>G MANE Select	ENSP00000394382.2:p.Ser312Gly
ENST00000379804.1:c.91A>G	ENSP00000369132.1:p.Ser31Gly
ENST00000379806.9:c.1048A>G	ENSP00000369134.5:p.Ser350Gly
ENST00000422285.6:c.934A>G	ENSP00000394382.2:p.Ser312Gly
ENST00000478795.1:n.373A>G
ENST00000481733.1:n.362A>G
ENST00000540249.5:c.841A>G	ENSP00000440761.1:p.Ser281Gly
ENST00000545074.5:c.955A>G	ENSP00000438550.1:p.Ser319Gly
NM_000284.3:c.934A>G	NP_000275.1:p.Ser312Gly
NM_001173454.1:c.1048A>G	NP_001166925.1:p.Ser350Gly
NM_001173455.1:c.955A>G	NP_001166926.1:p.Ser319Gly
NM_001173456.1:c.841A>G	NP_001166927.1:p.Ser281Gly
XM_011545531.1:c.1069A>G	XP_011543833.1:p.Ser357Gly
XM_011545532.1:c.976A>G	XP_011543834.1:p.Ser326Gly
XM_017029574.2:c.955A>G	XP_016885063.1:p.Ser319Gly
NM_000284.4:c.934A>G MANE Select	NP_000275.1:p.Ser312Gly
NM_001173454.2:c.1048A>G	NP_001166925.1:p.Ser350Gly
NM_001173455.2:c.955A>G	NP_001166926.1:p.Ser319Gly
NM_001173456.2:c.841A>G	NP_001166927.1:p.Ser281Gly