Canonical Allele Identifier: CA412396286

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359016-G-C
• MyVariant Identifiers: chrX:g.19377134G>C (hg19) ; chrX:g.19359016G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359016G>C , CM000685.2:g.19359016G>C	GRCh38
NC_000023.10:g.19377134G>C , CM000685.1:g.19377134G>C	GRCh37
NC_000023.9:g.19287055G>C	NCBI36
NG_016781.1:g.20124G>C
NG_021184.1:g.161246C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1021G>C	ENSP00000348062.6:p.Glu341Gln
ENST00000379805.4:c.*692G>C	ENSP00000369133.3:n.*692G>C
ENST00000417819.6:c.1084G>C	ENSP00000404616.2:p.Glu362Gln
ENST00000423505.6:c.1114G>C	ENSP00000406473.2:p.Glu372Gln
ENST00000481733.2:n.795G>C
ENST00000696704.1:c.*332G>C	ENSP00000512823.1:n.*332G>C
ENST00000696705.1:c.*455G>C	ENSP00000512824.1:n.*455G>C
ENST00000422285.7:c.1000G>C MANE Select	ENSP00000394382.2:p.Glu334Gln
ENST00000379804.1:c.157G>C	ENSP00000369132.1:p.Glu53Gln
ENST00000379806.9:c.1114G>C	ENSP00000369134.5:p.Glu372Gln
ENST00000422285.6:c.1000G>C	ENSP00000394382.2:p.Glu334Gln
ENST00000478795.1:n.439G>C
ENST00000481733.1:n.428G>C
ENST00000540249.5:c.907G>C	ENSP00000440761.1:p.Glu303Gln
ENST00000545074.5:c.1021G>C	ENSP00000438550.1:p.Glu341Gln
NM_000284.3:c.1000G>C	NP_000275.1:p.Glu334Gln
NM_001173454.1:c.1114G>C	NP_001166925.1:p.Glu372Gln
NM_001173455.1:c.1021G>C	NP_001166926.1:p.Glu341Gln
NM_001173456.1:c.907G>C	NP_001166927.1:p.Glu303Gln
XM_011545531.1:c.1135G>C	XP_011543833.1:p.Glu379Gln
XM_011545532.1:c.1042G>C	XP_011543834.1:p.Glu348Gln
XM_017029574.2:c.1021G>C	XP_016885063.1:p.Glu341Gln
NM_000284.4:c.1000G>C MANE Select	NP_000275.1:p.Glu334Gln
NM_001173454.2:c.1114G>C	NP_001166925.1:p.Glu372Gln
NM_001173455.2:c.1021G>C	NP_001166926.1:p.Glu341Gln
NM_001173456.2:c.907G>C	NP_001166927.1:p.Glu303Gln