Canonical Allele Identifier: CA10363114

Gene: PDHA1

Linked Data

• dbSNP Id: rs770975182
• ExAC: X:19373806 G / A
• gnomAD v2: X-19373806-G-A
• gnomAD v3: X-19355688-G-A
• gnomAD v4: X-19355688-G-A
• MyVariant Identifiers: chrX:g.19373806G>A (hg19) ; chrX:g.19355688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355688G>A , CM000685.2:g.19355688G>A	GRCh38
NC_000023.10:g.19373806G>A , CM000685.1:g.19373806G>A	GRCh37
NC_000023.9:g.19283727G>A	NCBI36
NG_016781.1:g.16796G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.783G>A	ENSP00000348062.6:p.Val261=
ENST00000379805.4:c.*454G>A	ENSP00000369133.3:n.*454G>A
ENST00000417819.6:c.846G>A	ENSP00000404616.2:p.Val282=
ENST00000423505.6:c.876G>A	ENSP00000406473.2:p.Val292=
ENST00000481733.2:n.557G>A
ENST00000696704.1:c.*94G>A	ENSP00000512823.1:n.*94G>A
ENST00000696705.1:c.*217G>A	ENSP00000512824.1:n.*217G>A
ENST00000422285.7:c.762G>A MANE Select	ENSP00000394382.2:p.Val254=
ENST00000379804.1:c.-82G>A	ENSP00000369132.1:n.-82G>A
ENST00000379806.9:c.876G>A	ENSP00000369134.5:p.Val292=
ENST00000422285.6:c.762G>A	ENSP00000394382.2:p.Val254=
ENST00000481733.1:n.190G>A
ENST00000540249.5:c.669G>A	ENSP00000440761.1:p.Val223=
ENST00000545074.5:c.783G>A	ENSP00000438550.1:p.Val261=
NM_000284.3:c.762G>A	NP_000275.1:p.Val254=
NM_001173454.1:c.876G>A	NP_001166925.1:p.Val292=
NM_001173455.1:c.783G>A	NP_001166926.1:p.Val261=
NM_001173456.1:c.669G>A	NP_001166927.1:p.Val223=
XM_011545531.1:c.897G>A	XP_011543833.1:p.Val299=
XM_011545532.1:c.804G>A	XP_011543834.1:p.Val268=
XM_017029574.2:c.783G>A	XP_016885063.1:p.Val261=
NM_000284.4:c.762G>A MANE Select	NP_000275.1:p.Val254=
NM_001173454.2:c.876G>A	NP_001166925.1:p.Val292=
NM_001173455.2:c.783G>A	NP_001166926.1:p.Val261=
NM_001173456.2:c.669G>A	NP_001166927.1:p.Val223=