Canonical Allele Identifier: CA10363154

Gene: PDHA1

Linked Data

• dbSNP Id: rs780521730
• ExAC: X:19376985 C / G
• gnomAD v2: X-19376985-C-G
• gnomAD v3: X-19358867-C-G
• gnomAD v4: X-19358867-C-G
• MyVariant Identifiers: chrX:g.19376985C>G (hg19) ; chrX:g.19358867C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358867C>G , CM000685.2:g.19358867C>G	GRCh38
NC_000023.10:g.19376985C>G , CM000685.1:g.19376985C>G	GRCh37
NC_000023.9:g.19286906C>G	NCBI36
NG_016781.1:g.19975C>G
NG_021184.1:g.161395G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.921-49C>G	ENSP00000348062.6:n.921-49C>G
ENST00000379805.4:c.*592-49C>G	ENSP00000369133.3:n.*592-49C>G
ENST00000417819.6:c.984-49C>G	ENSP00000404616.2:n.984-49C>G
ENST00000423505.6:c.1014-49C>G	ENSP00000406473.2:n.1014-49C>G
ENST00000481733.2:n.695-49C>G
ENST00000696704.1:c.*232-49C>G	ENSP00000512823.1:n.*232-49C>G
ENST00000696705.1:c.*355-49C>G	ENSP00000512824.1:n.*355-49C>G
ENST00000422285.7:c.900-49C>G MANE Select	ENSP00000394382.2:n.900-49C>G
ENST00000379804.1:c.57-49C>G	ENSP00000369132.1:n.57-49C>G
ENST00000379806.9:c.1014-49C>G	ENSP00000369134.5:n.1014-49C>G
ENST00000422285.6:c.900-49C>G	ENSP00000394382.2:n.900-49C>G
ENST00000478795.1:n.339-49C>G
ENST00000481733.1:n.328-49C>G
ENST00000540249.5:c.807-49C>G	ENSP00000440761.1:n.807-49C>G
ENST00000545074.5:c.921-49C>G	ENSP00000438550.1:n.921-49C>G
NM_000284.3:c.900-49C>G	NP_000275.1:n.900-49C>G
NM_001173454.1:c.1014-49C>G	NP_001166925.1:n.1014-49C>G
NM_001173455.1:c.921-49C>G	NP_001166926.1:n.921-49C>G
NM_001173456.1:c.807-49C>G	NP_001166927.1:n.807-49C>G
XM_011545531.1:c.1035-49C>G	XP_011543833.1:n.1035-49C>G
XM_011545532.1:c.942-49C>G	XP_011543834.1:n.942-49C>G
XM_017029574.2:c.921-49C>G	XP_016885063.1:n.921-49C>G
NM_000284.4:c.900-49C>G MANE Select	NP_000275.1:n.900-49C>G
NM_001173454.2:c.1014-49C>G	NP_001166925.1:n.1014-49C>G
NM_001173455.2:c.921-49C>G	NP_001166926.1:n.921-49C>G
NM_001173456.2:c.807-49C>G	NP_001166927.1:n.807-49C>G