Canonical Allele Identifier: CA412396228

Gene: PDHA1

Linked Data

• gnomAD v4: X-19358990-T-C
• MyVariant Identifiers: chrX:g.19377108T>C (hg19) ; chrX:g.19358990T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358990T>C , CM000685.2:g.19358990T>C	GRCh38
NC_000023.10:g.19377108T>C , CM000685.1:g.19377108T>C	GRCh37
NC_000023.9:g.19287029T>C	NCBI36
NG_016781.1:g.20098T>C
NG_021184.1:g.161272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.995T>C	ENSP00000348062.6:p.Val332Ala
ENST00000379805.4:c.*666T>C	ENSP00000369133.3:n.*666T>C
ENST00000417819.6:c.1058T>C	ENSP00000404616.2:p.Val353Ala
ENST00000423505.6:c.1088T>C	ENSP00000406473.2:p.Val363Ala
ENST00000481733.2:n.769T>C
ENST00000696704.1:c.*306T>C	ENSP00000512823.1:n.*306T>C
ENST00000696705.1:c.*429T>C	ENSP00000512824.1:n.*429T>C
ENST00000422285.7:c.974T>C MANE Select	ENSP00000394382.2:p.Val325Ala
ENST00000379804.1:c.131T>C	ENSP00000369132.1:p.Val44Ala
ENST00000379806.9:c.1088T>C	ENSP00000369134.5:p.Val363Ala
ENST00000422285.6:c.974T>C	ENSP00000394382.2:p.Val325Ala
ENST00000478795.1:n.413T>C
ENST00000481733.1:n.402T>C
ENST00000540249.5:c.881T>C	ENSP00000440761.1:p.Val294Ala
ENST00000545074.5:c.995T>C	ENSP00000438550.1:p.Val332Ala
NM_000284.3:c.974T>C	NP_000275.1:p.Val325Ala
NM_001173454.1:c.1088T>C	NP_001166925.1:p.Val363Ala
NM_001173455.1:c.995T>C	NP_001166926.1:p.Val332Ala
NM_001173456.1:c.881T>C	NP_001166927.1:p.Val294Ala
XM_011545531.1:c.1109T>C	XP_011543833.1:p.Val370Ala
XM_011545532.1:c.1016T>C	XP_011543834.1:p.Val339Ala
XM_017029574.2:c.995T>C	XP_016885063.1:p.Val332Ala
NM_000284.4:c.974T>C MANE Select	NP_000275.1:p.Val325Ala
NM_001173454.2:c.1088T>C	NP_001166925.1:p.Val363Ala
NM_001173455.2:c.995T>C	NP_001166926.1:p.Val332Ala
NM_001173456.2:c.881T>C	NP_001166927.1:p.Val294Ala