Canonical Allele Identifier: CA412396650

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377670G>C (hg19) ; chrX:g.19359552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359552G>C , CM000685.2:g.19359552G>C	GRCh38
NC_000023.10:g.19377670G>C , CM000685.1:g.19377670G>C	GRCh37
NC_000023.9:g.19287591G>C	NCBI36
NG_016781.1:g.20660G>C
NG_021184.1:g.160710C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1093G>C	ENSP00000348062.6:p.Glu365Gln
ENST00000379805.4:c.*764G>C	ENSP00000369133.3:n.*764G>C
ENST00000417819.6:c.1156G>C	ENSP00000404616.2:p.Glu386Gln
ENST00000423505.6:c.1186G>C	ENSP00000406473.2:p.Glu396Gln
ENST00000481733.2:n.867G>C
ENST00000696704.1:c.*404G>C	ENSP00000512823.1:n.*404G>C
ENST00000696705.1:c.*527G>C	ENSP00000512824.1:n.*527G>C
ENST00000422285.7:c.1072G>C MANE Select	ENSP00000394382.2:p.Glu358Gln
ENST00000379804.1:c.229G>C	ENSP00000369132.1:p.Glu77Gln
ENST00000379806.9:c.1186G>C	ENSP00000369134.5:p.Glu396Gln
ENST00000422285.6:c.1072G>C	ENSP00000394382.2:p.Glu358Gln
ENST00000478795.1:n.511G>C
ENST00000540249.5:c.979G>C	ENSP00000440761.1:p.Glu327Gln
ENST00000545074.5:c.1093G>C	ENSP00000438550.1:p.Glu365Gln
NM_000284.3:c.1072G>C	NP_000275.1:p.Glu358Gln
NM_001173454.1:c.1186G>C	NP_001166925.1:p.Glu396Gln
NM_001173455.1:c.1093G>C	NP_001166926.1:p.Glu365Gln
NM_001173456.1:c.979G>C	NP_001166927.1:p.Glu327Gln
XM_011545531.1:c.1207G>C	XP_011543833.1:p.Glu403Gln
XM_011545532.1:c.1114G>C	XP_011543834.1:p.Glu372Gln
XM_017029574.2:c.1093G>C	XP_016885063.1:p.Glu365Gln
NM_000284.4:c.1072G>C MANE Select	NP_000275.1:p.Glu358Gln
NM_001173454.2:c.1186G>C	NP_001166925.1:p.Glu396Gln
NM_001173455.2:c.1093G>C	NP_001166926.1:p.Glu365Gln
NM_001173456.2:c.979G>C	NP_001166927.1:p.Glu327Gln