Canonical Allele Identifier: CA412393521

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19371293T>C (hg19) ; chrX:g.19353175T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353175T>C , CM000685.2:g.19353175T>C	GRCh38
NC_000023.10:g.19371293T>C , CM000685.1:g.19371293T>C	GRCh37
NC_000023.9:g.19281214T>C	NCBI36
NG_016781.1:g.14283T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.531+2T>C	ENSP00000348062.6:n.531+2T>C
ENST00000379805.4:c.512T>C	ENSP00000369133.3:p.Val171Ala
ENST00000417819.6:c.594+2T>C	ENSP00000404616.2:n.594+2T>C
ENST00000423505.6:c.624+2T>C	ENSP00000406473.2:n.624+2T>C
ENST00000696704.1:c.418+1768T>C	ENSP00000512823.1:n.418+1768T>C
ENST00000696705.1:c.419-1316T>C	ENSP00000512824.1:n.419-1316T>C
ENST00000422285.7:c.510+2T>C MANE Select	ENSP00000394382.2:n.510+2T>C
ENST00000355808.9:c.531+2T>C	ENSP00000348062.5:n.531+2T>C
ENST00000379805.3:c.512T>C	ENSP00000369133.3:p.Val171Ala
ENST00000379806.9:c.624+2T>C	ENSP00000369134.5:n.624+2T>C
ENST00000422285.6:c.510+2T>C	ENSP00000394382.2:n.510+2T>C
ENST00000479146.1:n.345+2T>C
ENST00000540249.5:c.510+2T>C	ENSP00000440761.1:n.510+2T>C
ENST00000545074.5:c.531+2T>C	ENSP00000438550.1:n.531+2T>C
NM_000284.3:c.510+2T>C	NP_000275.1:n.510+2T>C
NM_001173454.1:c.624+2T>C	NP_001166925.1:n.624+2T>C
NM_001173455.1:c.531+2T>C	NP_001166926.1:n.531+2T>C
NM_001173456.1:c.510+2T>C	NP_001166927.1:n.510+2T>C
XM_011545531.1:c.645+2T>C	XP_011543833.1:n.645+2T>C
XM_011545532.1:c.645+2T>C	XP_011543834.1:n.645+2T>C
XM_017029574.2:c.624+2T>C	XP_016885063.1:n.624+2T>C
NM_000284.4:c.510+2T>C MANE Select	NP_000275.1:n.510+2T>C
NM_001173454.2:c.624+2T>C	NP_001166925.1:n.624+2T>C
NM_001173455.2:c.531+2T>C	NP_001166926.1:n.531+2T>C
NM_001173456.2:c.510+2T>C	NP_001166927.1:n.510+2T>C