Canonical Allele Identifier: CA412396735

Gene: PDHA1

Linked Data

• dbSNP Id: rs1322519408
• gnomAD v2: X-19377682-G-C
• gnomAD v4: X-19359564-G-C
• MyVariant Identifiers: chrX:g.19377682G>C (hg19) ; chrX:g.19359564G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359564G>C , CM000685.2:g.19359564G>C	GRCh38
NC_000023.10:g.19377682G>C , CM000685.1:g.19377682G>C	GRCh37
NC_000023.9:g.19287603G>C	NCBI36
NG_016781.1:g.20672G>C
NG_021184.1:g.160698C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1105G>C	ENSP00000348062.6:p.Glu369Gln
ENST00000379805.4:c.*776G>C	ENSP00000369133.3:n.*776G>C
ENST00000417819.6:c.1168G>C	ENSP00000404616.2:p.Glu390Gln
ENST00000423505.6:c.1198G>C	ENSP00000406473.2:p.Glu400Gln
ENST00000481733.2:n.879G>C
ENST00000696704.1:c.*416G>C	ENSP00000512823.1:n.*416G>C
ENST00000696705.1:c.*539G>C	ENSP00000512824.1:n.*539G>C
ENST00000422285.7:c.1084G>C MANE Select	ENSP00000394382.2:p.Glu362Gln
ENST00000379804.1:c.241G>C	ENSP00000369132.1:p.Glu81Gln
ENST00000379806.9:c.1198G>C	ENSP00000369134.5:p.Glu400Gln
ENST00000422285.6:c.1084G>C	ENSP00000394382.2:p.Glu362Gln
ENST00000478795.1:n.523G>C
ENST00000540249.5:c.991G>C	ENSP00000440761.1:p.Glu331Gln
ENST00000545074.5:c.1105G>C	ENSP00000438550.1:p.Glu369Gln
NM_000284.3:c.1084G>C	NP_000275.1:p.Glu362Gln
NM_001173454.1:c.1198G>C	NP_001166925.1:p.Glu400Gln
NM_001173455.1:c.1105G>C	NP_001166926.1:p.Glu369Gln
NM_001173456.1:c.991G>C	NP_001166927.1:p.Glu331Gln
XM_011545531.1:c.1219G>C	XP_011543833.1:p.Glu407Gln
XM_011545532.1:c.1126G>C	XP_011543834.1:p.Glu376Gln
XM_017029574.2:c.1105G>C	XP_016885063.1:p.Glu369Gln
NM_000284.4:c.1084G>C MANE Select	NP_000275.1:p.Glu362Gln
NM_001173454.2:c.1198G>C	NP_001166925.1:p.Glu400Gln
NM_001173455.2:c.1105G>C	NP_001166926.1:p.Glu369Gln
NM_001173456.2:c.991G>C	NP_001166927.1:p.Glu331Gln