Canonical Allele Identifier: CA412396700

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377677C>G (hg19) ; chrX:g.19359559C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359559C>G , CM000685.2:g.19359559C>G	GRCh38
NC_000023.10:g.19377677C>G , CM000685.1:g.19377677C>G	GRCh37
NC_000023.9:g.19287598C>G	NCBI36
NG_016781.1:g.20667C>G
NG_021184.1:g.160703G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1100C>G	ENSP00000348062.6:p.Pro367Arg
ENST00000379805.4:c.*771C>G	ENSP00000369133.3:n.*771C>G
ENST00000417819.6:c.1163C>G	ENSP00000404616.2:p.Pro388Arg
ENST00000423505.6:c.1193C>G	ENSP00000406473.2:p.Pro398Arg
ENST00000481733.2:n.874C>G
ENST00000696704.1:c.*411C>G	ENSP00000512823.1:n.*411C>G
ENST00000696705.1:c.*534C>G	ENSP00000512824.1:n.*534C>G
ENST00000422285.7:c.1079C>G MANE Select	ENSP00000394382.2:p.Pro360Arg
ENST00000379804.1:c.236C>G	ENSP00000369132.1:p.Pro79Arg
ENST00000379806.9:c.1193C>G	ENSP00000369134.5:p.Pro398Arg
ENST00000422285.6:c.1079C>G	ENSP00000394382.2:p.Pro360Arg
ENST00000478795.1:n.518C>G
ENST00000540249.5:c.986C>G	ENSP00000440761.1:p.Pro329Arg
ENST00000545074.5:c.1100C>G	ENSP00000438550.1:p.Pro367Arg
NM_000284.3:c.1079C>G	NP_000275.1:p.Pro360Arg
NM_001173454.1:c.1193C>G	NP_001166925.1:p.Pro398Arg
NM_001173455.1:c.1100C>G	NP_001166926.1:p.Pro367Arg
NM_001173456.1:c.986C>G	NP_001166927.1:p.Pro329Arg
XM_011545531.1:c.1214C>G	XP_011543833.1:p.Pro405Arg
XM_011545532.1:c.1121C>G	XP_011543834.1:p.Pro374Arg
XM_017029574.2:c.1100C>G	XP_016885063.1:p.Pro367Arg
NM_000284.4:c.1079C>G MANE Select	NP_000275.1:p.Pro360Arg
NM_001173454.2:c.1193C>G	NP_001166925.1:p.Pro398Arg
NM_001173455.2:c.1100C>G	NP_001166926.1:p.Pro367Arg
NM_001173456.2:c.986C>G	NP_001166927.1:p.Pro329Arg