Canonical Allele Identifier: CA412396694

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377676C>G (hg19) ; chrX:g.19359558C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359558C>G , CM000685.2:g.19359558C>G	GRCh38
NC_000023.10:g.19377676C>G , CM000685.1:g.19377676C>G	GRCh37
NC_000023.9:g.19287597C>G	NCBI36
NG_016781.1:g.20666C>G
NG_021184.1:g.160704G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1099C>G	ENSP00000348062.6:p.Pro367Ala
ENST00000379805.4:c.*770C>G	ENSP00000369133.3:n.*770C>G
ENST00000417819.6:c.1162C>G	ENSP00000404616.2:p.Pro388Ala
ENST00000423505.6:c.1192C>G	ENSP00000406473.2:p.Pro398Ala
ENST00000481733.2:n.873C>G
ENST00000696704.1:c.*410C>G	ENSP00000512823.1:n.*410C>G
ENST00000696705.1:c.*533C>G	ENSP00000512824.1:n.*533C>G
ENST00000422285.7:c.1078C>G MANE Select	ENSP00000394382.2:p.Pro360Ala
ENST00000379804.1:c.235C>G	ENSP00000369132.1:p.Pro79Ala
ENST00000379806.9:c.1192C>G	ENSP00000369134.5:p.Pro398Ala
ENST00000422285.6:c.1078C>G	ENSP00000394382.2:p.Pro360Ala
ENST00000478795.1:n.517C>G
ENST00000540249.5:c.985C>G	ENSP00000440761.1:p.Pro329Ala
ENST00000545074.5:c.1099C>G	ENSP00000438550.1:p.Pro367Ala
NM_000284.3:c.1078C>G	NP_000275.1:p.Pro360Ala
NM_001173454.1:c.1192C>G	NP_001166925.1:p.Pro398Ala
NM_001173455.1:c.1099C>G	NP_001166926.1:p.Pro367Ala
NM_001173456.1:c.985C>G	NP_001166927.1:p.Pro329Ala
XM_011545531.1:c.1213C>G	XP_011543833.1:p.Pro405Ala
XM_011545532.1:c.1120C>G	XP_011543834.1:p.Pro374Ala
XM_017029574.2:c.1099C>G	XP_016885063.1:p.Pro367Ala
NM_000284.4:c.1078C>G MANE Select	NP_000275.1:p.Pro360Ala
NM_001173454.2:c.1192C>G	NP_001166925.1:p.Pro398Ala
NM_001173455.2:c.1099C>G	NP_001166926.1:p.Pro367Ala
NM_001173456.2:c.985C>G	NP_001166927.1:p.Pro329Ala