Canonical Allele Identifier: CA412396728

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377681G>C (hg19) ; chrX:g.19359563G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359563G>C , CM000685.2:g.19359563G>C	GRCh38
NC_000023.10:g.19377681G>C , CM000685.1:g.19377681G>C	GRCh37
NC_000023.9:g.19287602G>C	NCBI36
NG_016781.1:g.20671G>C
NG_021184.1:g.160699C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1104G>C	ENSP00000348062.6:p.Leu368Phe
ENST00000379805.4:c.*775G>C	ENSP00000369133.3:n.*775G>C
ENST00000417819.6:c.1167G>C	ENSP00000404616.2:p.Leu389Phe
ENST00000423505.6:c.1197G>C	ENSP00000406473.2:p.Leu399Phe
ENST00000481733.2:n.878G>C
ENST00000696704.1:c.*415G>C	ENSP00000512823.1:n.*415G>C
ENST00000696705.1:c.*538G>C	ENSP00000512824.1:n.*538G>C
ENST00000422285.7:c.1083G>C MANE Select	ENSP00000394382.2:p.Leu361Phe
ENST00000379804.1:c.240G>C	ENSP00000369132.1:p.Leu80Phe
ENST00000379806.9:c.1197G>C	ENSP00000369134.5:p.Leu399Phe
ENST00000422285.6:c.1083G>C	ENSP00000394382.2:p.Leu361Phe
ENST00000478795.1:n.522G>C
ENST00000540249.5:c.990G>C	ENSP00000440761.1:p.Leu330Phe
ENST00000545074.5:c.1104G>C	ENSP00000438550.1:p.Leu368Phe
NM_000284.3:c.1083G>C	NP_000275.1:p.Leu361Phe
NM_001173454.1:c.1197G>C	NP_001166925.1:p.Leu399Phe
NM_001173455.1:c.1104G>C	NP_001166926.1:p.Leu368Phe
NM_001173456.1:c.990G>C	NP_001166927.1:p.Leu330Phe
XM_011545531.1:c.1218G>C	XP_011543833.1:p.Leu406Phe
XM_011545532.1:c.1125G>C	XP_011543834.1:p.Leu375Phe
XM_017029574.2:c.1104G>C	XP_016885063.1:p.Leu368Phe
NM_000284.4:c.1083G>C MANE Select	NP_000275.1:p.Leu361Phe
NM_001173454.2:c.1197G>C	NP_001166925.1:p.Leu399Phe
NM_001173455.2:c.1104G>C	NP_001166926.1:p.Leu368Phe
NM_001173456.2:c.990G>C	NP_001166927.1:p.Leu330Phe