Canonical Allele Identifier: CA412394747

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373819A>C (hg19) ; chrX:g.19355701A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355701A>C , CM000685.2:g.19355701A>C	GRCh38
NC_000023.10:g.19373819A>C , CM000685.1:g.19373819A>C	GRCh37
NC_000023.9:g.19283740A>C	NCBI36
NG_016781.1:g.16809A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.796A>C	ENSP00000348062.6:p.Ile266Leu
ENST00000379805.4:c.*467A>C	ENSP00000369133.3:n.*467A>C
ENST00000417819.6:c.859A>C	ENSP00000404616.2:p.Ile287Leu
ENST00000423505.6:c.889A>C	ENSP00000406473.2:p.Ile297Leu
ENST00000481733.2:n.570A>C
ENST00000696704.1:c.*107A>C	ENSP00000512823.1:n.*107A>C
ENST00000696705.1:c.*230A>C	ENSP00000512824.1:n.*230A>C
ENST00000422285.7:c.775A>C MANE Select	ENSP00000394382.2:p.Ile259Leu
ENST00000379804.1:c.-69A>C	ENSP00000369132.1:n.-69A>C
ENST00000379806.9:c.889A>C	ENSP00000369134.5:p.Ile297Leu
ENST00000422285.6:c.775A>C	ENSP00000394382.2:p.Ile259Leu
ENST00000481733.1:n.203A>C
ENST00000540249.5:c.682A>C	ENSP00000440761.1:p.Ile228Leu
ENST00000545074.5:c.796A>C	ENSP00000438550.1:p.Ile266Leu
NM_000284.3:c.775A>C	NP_000275.1:p.Ile259Leu
NM_001173454.1:c.889A>C	NP_001166925.1:p.Ile297Leu
NM_001173455.1:c.796A>C	NP_001166926.1:p.Ile266Leu
NM_001173456.1:c.682A>C	NP_001166927.1:p.Ile228Leu
XM_011545531.1:c.910A>C	XP_011543833.1:p.Ile304Leu
XM_011545532.1:c.817A>C	XP_011543834.1:p.Ile273Leu
XM_017029574.2:c.796A>C	XP_016885063.1:p.Ile266Leu
NM_000284.4:c.775A>C MANE Select	NP_000275.1:p.Ile259Leu
NM_001173454.2:c.889A>C	NP_001166925.1:p.Ile297Leu
NM_001173455.2:c.796A>C	NP_001166926.1:p.Ile266Leu
NM_001173456.2:c.682A>C	NP_001166927.1:p.Ile228Leu