Canonical Allele Identifier: CA412394595

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373576C>A (hg19) ; chrX:g.19355458C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355458C>A , CM000685.2:g.19355458C>A	GRCh38
NC_000023.10:g.19373576C>A , CM000685.1:g.19373576C>A	GRCh37
NC_000023.9:g.19283497C>A	NCBI36
NG_016781.1:g.16566C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.734C>A	ENSP00000348062.6:p.Ala245Asp
ENST00000379805.4:c.*405C>A	ENSP00000369133.3:n.*405C>A
ENST00000417819.6:c.797C>A	ENSP00000404616.2:p.Ala266Asp
ENST00000423505.6:c.827C>A	ENSP00000406473.2:p.Ala276Asp
ENST00000481733.2:n.508C>A
ENST00000696704.1:c.*45C>A	ENSP00000512823.1:n.*45C>A
ENST00000696705.1:c.*168C>A	ENSP00000512824.1:n.*168C>A
ENST00000422285.7:c.713C>A MANE Select	ENSP00000394382.2:p.Ala238Asp
ENST00000379806.9:c.827C>A	ENSP00000369134.5:p.Ala276Asp
ENST00000422285.6:c.713C>A	ENSP00000394382.2:p.Ala238Asp
ENST00000481733.1:n.141C>A
ENST00000540249.5:c.620C>A	ENSP00000440761.1:p.Ala207Asp
ENST00000545074.5:c.734C>A	ENSP00000438550.1:p.Ala245Asp
NM_000284.3:c.713C>A	NP_000275.1:p.Ala238Asp
NM_001173454.1:c.827C>A	NP_001166925.1:p.Ala276Asp
NM_001173455.1:c.734C>A	NP_001166926.1:p.Ala245Asp
NM_001173456.1:c.620C>A	NP_001166927.1:p.Ala207Asp
XM_011545531.1:c.848C>A	XP_011543833.1:p.Ala283Asp
XM_011545532.1:c.755C>A	XP_011543834.1:p.Ala252Asp
XM_017029574.2:c.734C>A	XP_016885063.1:p.Ala245Asp
NM_000284.4:c.713C>A MANE Select	NP_000275.1:p.Ala238Asp
NM_001173454.2:c.827C>A	NP_001166925.1:p.Ala276Asp
NM_001173455.2:c.734C>A	NP_001166926.1:p.Ala245Asp
NM_001173456.2:c.620C>A	NP_001166927.1:p.Ala207Asp