Canonical Allele Identifier: CA10363210

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1597814
• ClinVar RCV Id: RCV002120060
• dbSNP Id: rs745312753
• ExAC: X:19377681 G / A
• gnomAD v2: X-19377681-G-A
• gnomAD v4: X-19359563-G-A
• MyVariant Identifiers: chrX:g.19377681G>A (hg19) ; chrX:g.19359563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359563G>A , CM000685.2:g.19359563G>A	GRCh38
NC_000023.10:g.19377681G>A , CM000685.1:g.19377681G>A	GRCh37
NC_000023.9:g.19287602G>A	NCBI36
NG_016781.1:g.20671G>A
NG_021184.1:g.160699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1104G>A	ENSP00000348062.6:p.Leu368=
ENST00000379805.4:c.*775G>A	ENSP00000369133.3:n.*775G>A
ENST00000417819.6:c.1167G>A	ENSP00000404616.2:p.Leu389=
ENST00000423505.6:c.1197G>A	ENSP00000406473.2:p.Leu399=
ENST00000481733.2:n.878G>A
ENST00000696704.1:c.*415G>A	ENSP00000512823.1:n.*415G>A
ENST00000696705.1:c.*538G>A	ENSP00000512824.1:n.*538G>A
ENST00000422285.7:c.1083G>A MANE Select	ENSP00000394382.2:p.Leu361=
ENST00000379804.1:c.240G>A	ENSP00000369132.1:p.Leu80=
ENST00000379806.9:c.1197G>A	ENSP00000369134.5:p.Leu399=
ENST00000422285.6:c.1083G>A	ENSP00000394382.2:p.Leu361=
ENST00000478795.1:n.522G>A
ENST00000540249.5:c.990G>A	ENSP00000440761.1:p.Leu330=
ENST00000545074.5:c.1104G>A	ENSP00000438550.1:p.Leu368=
NM_000284.3:c.1083G>A	NP_000275.1:p.Leu361=
NM_001173454.1:c.1197G>A	NP_001166925.1:p.Leu399=
NM_001173455.1:c.1104G>A	NP_001166926.1:p.Leu368=
NM_001173456.1:c.990G>A	NP_001166927.1:p.Leu330=
XM_011545531.1:c.1218G>A	XP_011543833.1:p.Leu406=
XM_011545532.1:c.1125G>A	XP_011543834.1:p.Leu375=
XM_017029574.2:c.1104G>A	XP_016885063.1:p.Leu368=
NM_000284.4:c.1083G>A MANE Select	NP_000275.1:p.Leu361=
NM_001173454.2:c.1197G>A	NP_001166925.1:p.Leu399=
NM_001173455.2:c.1104G>A	NP_001166926.1:p.Leu368=
NM_001173456.2:c.990G>A	NP_001166927.1:p.Leu330=