Canonical Allele Identifier: CA412396721

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377680T>C (hg19) ; chrX:g.19359562T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359562T>C , CM000685.2:g.19359562T>C	GRCh38
NC_000023.10:g.19377680T>C , CM000685.1:g.19377680T>C	GRCh37
NC_000023.9:g.19287601T>C	NCBI36
NG_016781.1:g.20670T>C
NG_021184.1:g.160700A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1103T>C	ENSP00000348062.6:p.Leu368Ser
ENST00000379805.4:c.*774T>C	ENSP00000369133.3:n.*774T>C
ENST00000417819.6:c.1166T>C	ENSP00000404616.2:p.Leu389Ser
ENST00000423505.6:c.1196T>C	ENSP00000406473.2:p.Leu399Ser
ENST00000481733.2:n.877T>C
ENST00000696704.1:c.*414T>C	ENSP00000512823.1:n.*414T>C
ENST00000696705.1:c.*537T>C	ENSP00000512824.1:n.*537T>C
ENST00000422285.7:c.1082T>C MANE Select	ENSP00000394382.2:p.Leu361Ser
ENST00000379804.1:c.239T>C	ENSP00000369132.1:p.Leu80Ser
ENST00000379806.9:c.1196T>C	ENSP00000369134.5:p.Leu399Ser
ENST00000422285.6:c.1082T>C	ENSP00000394382.2:p.Leu361Ser
ENST00000478795.1:n.521T>C
ENST00000540249.5:c.989T>C	ENSP00000440761.1:p.Leu330Ser
ENST00000545074.5:c.1103T>C	ENSP00000438550.1:p.Leu368Ser
NM_000284.3:c.1082T>C	NP_000275.1:p.Leu361Ser
NM_001173454.1:c.1196T>C	NP_001166925.1:p.Leu399Ser
NM_001173455.1:c.1103T>C	NP_001166926.1:p.Leu368Ser
NM_001173456.1:c.989T>C	NP_001166927.1:p.Leu330Ser
XM_011545531.1:c.1217T>C	XP_011543833.1:p.Leu406Ser
XM_011545532.1:c.1124T>C	XP_011543834.1:p.Leu375Ser
XM_017029574.2:c.1103T>C	XP_016885063.1:p.Leu368Ser
NM_000284.4:c.1082T>C MANE Select	NP_000275.1:p.Leu361Ser
NM_001173454.2:c.1196T>C	NP_001166925.1:p.Leu399Ser
NM_001173455.2:c.1103T>C	NP_001166926.1:p.Leu368Ser
NM_001173456.2:c.989T>C	NP_001166927.1:p.Leu330Ser