Canonical Allele Identifier: CA412396118

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377062G>C (hg19) ; chrX:g.19358944G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358944G>C , CM000685.2:g.19358944G>C	GRCh38
NC_000023.10:g.19377062G>C , CM000685.1:g.19377062G>C	GRCh37
NC_000023.9:g.19286983G>C	NCBI36
NG_016781.1:g.20052G>C
NG_021184.1:g.161318C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.949G>C	ENSP00000348062.6:p.Val317Leu
ENST00000379805.4:c.*620G>C	ENSP00000369133.3:n.*620G>C
ENST00000417819.6:c.1012G>C	ENSP00000404616.2:p.Val338Leu
ENST00000423505.6:c.1042G>C	ENSP00000406473.2:p.Val348Leu
ENST00000481733.2:n.723G>C
ENST00000696704.1:c.*260G>C	ENSP00000512823.1:n.*260G>C
ENST00000696705.1:c.*383G>C	ENSP00000512824.1:n.*383G>C
ENST00000422285.7:c.928G>C MANE Select	ENSP00000394382.2:p.Val310Leu
ENST00000379804.1:c.85G>C	ENSP00000369132.1:p.Val29Leu
ENST00000379806.9:c.1042G>C	ENSP00000369134.5:p.Val348Leu
ENST00000422285.6:c.928G>C	ENSP00000394382.2:p.Val310Leu
ENST00000478795.1:n.367G>C
ENST00000481733.1:n.356G>C
ENST00000540249.5:c.835G>C	ENSP00000440761.1:p.Val279Leu
ENST00000545074.5:c.949G>C	ENSP00000438550.1:p.Val317Leu
NM_000284.3:c.928G>C	NP_000275.1:p.Val310Leu
NM_001173454.1:c.1042G>C	NP_001166925.1:p.Val348Leu
NM_001173455.1:c.949G>C	NP_001166926.1:p.Val317Leu
NM_001173456.1:c.835G>C	NP_001166927.1:p.Val279Leu
XM_011545531.1:c.1063G>C	XP_011543833.1:p.Val355Leu
XM_011545532.1:c.970G>C	XP_011543834.1:p.Val324Leu
XM_017029574.2:c.949G>C	XP_016885063.1:p.Val317Leu
NM_000284.4:c.928G>C MANE Select	NP_000275.1:p.Val310Leu
NM_001173454.2:c.1042G>C	NP_001166925.1:p.Val348Leu
NM_001173455.2:c.949G>C	NP_001166926.1:p.Val317Leu
NM_001173456.2:c.835G>C	NP_001166927.1:p.Val279Leu