Canonical Allele Identifier: CA412395277

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375831G>C (hg19) ; chrX:g.19357713G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357713G>C , CM000685.2:g.19357713G>C	GRCh38
NC_000023.10:g.19375831G>C , CM000685.1:g.19375831G>C	GRCh37
NC_000023.9:g.19285752G>C	NCBI36
NG_016781.1:g.18821G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.914G>C	ENSP00000348062.6:p.Gly305Ala
ENST00000379805.4:c.*585G>C	ENSP00000369133.3:n.*585G>C
ENST00000417819.6:c.977G>C	ENSP00000404616.2:p.Gly326Ala
ENST00000423505.6:c.1007G>C	ENSP00000406473.2:p.Gly336Ala
ENST00000481733.2:n.688G>C
ENST00000696704.1:c.*225G>C	ENSP00000512823.1:n.*225G>C
ENST00000696705.1:c.*348G>C	ENSP00000512824.1:n.*348G>C
ENST00000422285.7:c.893G>C MANE Select	ENSP00000394382.2:p.Gly298Ala
ENST00000379804.1:c.50G>C	ENSP00000369132.1:p.Gly17Ala
ENST00000379806.9:c.1007G>C	ENSP00000369134.5:p.Gly336Ala
ENST00000422285.6:c.893G>C	ENSP00000394382.2:p.Gly298Ala
ENST00000478795.1:n.332G>C
ENST00000481733.1:n.321G>C
ENST00000540249.5:c.800G>C	ENSP00000440761.1:p.Gly267Ala
ENST00000545074.5:c.914G>C	ENSP00000438550.1:p.Gly305Ala
NM_000284.3:c.893G>C	NP_000275.1:p.Gly298Ala
NM_001173454.1:c.1007G>C	NP_001166925.1:p.Gly336Ala
NM_001173455.1:c.914G>C	NP_001166926.1:p.Gly305Ala
NM_001173456.1:c.800G>C	NP_001166927.1:p.Gly267Ala
XM_011545531.1:c.1028G>C	XP_011543833.1:p.Gly343Ala
XM_011545532.1:c.935G>C	XP_011543834.1:p.Gly312Ala
XM_017029574.2:c.914G>C	XP_016885063.1:p.Gly305Ala
NM_000284.4:c.893G>C MANE Select	NP_000275.1:p.Gly298Ala
NM_001173454.2:c.1007G>C	NP_001166925.1:p.Gly336Ala
NM_001173455.2:c.914G>C	NP_001166926.1:p.Gly305Ala
NM_001173456.2:c.800G>C	NP_001166927.1:p.Gly267Ala