Canonical Allele Identifier: CA412394672

Gene: PDHA1

Linked Data

• gnomAD v4: X-19355490-A-C
• MyVariant Identifiers: chrX:g.19373608A>C (hg19) ; chrX:g.19355490A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355490A>C , CM000685.2:g.19355490A>C	GRCh38
NC_000023.10:g.19373608A>C , CM000685.1:g.19373608A>C	GRCh37
NC_000023.9:g.19283529A>C	NCBI36
NG_016781.1:g.16598A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.766A>C	ENSP00000348062.6:p.Ile256Leu
ENST00000379805.4:c.*437A>C	ENSP00000369133.3:n.*437A>C
ENST00000417819.6:c.829A>C	ENSP00000404616.2:p.Ile277Leu
ENST00000423505.6:c.859A>C	ENSP00000406473.2:p.Ile287Leu
ENST00000481733.2:n.540A>C
ENST00000696704.1:c.*77A>C	ENSP00000512823.1:n.*77A>C
ENST00000696705.1:c.*200A>C	ENSP00000512824.1:n.*200A>C
ENST00000422285.7:c.745A>C MANE Select	ENSP00000394382.2:p.Ile249Leu
ENST00000379806.9:c.859A>C	ENSP00000369134.5:p.Ile287Leu
ENST00000422285.6:c.745A>C	ENSP00000394382.2:p.Ile249Leu
ENST00000481733.1:n.173A>C
ENST00000540249.5:c.652A>C	ENSP00000440761.1:p.Ile218Leu
ENST00000545074.5:c.766A>C	ENSP00000438550.1:p.Ile256Leu
NM_000284.3:c.745A>C	NP_000275.1:p.Ile249Leu
NM_001173454.1:c.859A>C	NP_001166925.1:p.Ile287Leu
NM_001173455.1:c.766A>C	NP_001166926.1:p.Ile256Leu
NM_001173456.1:c.652A>C	NP_001166927.1:p.Ile218Leu
XM_011545531.1:c.880A>C	XP_011543833.1:p.Ile294Leu
XM_011545532.1:c.787A>C	XP_011543834.1:p.Ile263Leu
XM_017029574.2:c.766A>C	XP_016885063.1:p.Ile256Leu
NM_000284.4:c.745A>C MANE Select	NP_000275.1:p.Ile249Leu
NM_001173454.2:c.859A>C	NP_001166925.1:p.Ile287Leu
NM_001173455.2:c.766A>C	NP_001166926.1:p.Ile256Leu
NM_001173456.2:c.652A>C	NP_001166927.1:p.Ile218Leu