Canonical Allele Identifier: CA640857107

Gene: PDHA1

Linked Data

• dbSNP Id: rs1182226335
• gnomAD v2: X-19377807-T-G
• gnomAD v4: X-19359689-T-G
• MyVariant Identifiers: chrX:g.19377807T>G (hg19) ; chrX:g.19359689T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359689T>G , CM000685.2:g.19359689T>G	GRCh38
NC_000023.10:g.19377807T>G , CM000685.1:g.19377807T>G	GRCh37
NC_000023.9:g.19287728T>G	NCBI36
NG_016781.1:g.20797T>G
NG_021184.1:g.160573A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*36T>G	ENSP00000348062.6:n.*36T>G
ENST00000379805.4:c.*901T>G	ENSP00000369133.3:n.*901T>G
ENST00000417819.6:c.*36T>G	ENSP00000404616.2:n.*36T>G
ENST00000423505.6:c.*36T>G	ENSP00000406473.2:n.*36T>G
ENST00000481733.2:n.1004T>G
ENST00000696704.1:c.*541T>G	ENSP00000512823.1:n.*541T>G
ENST00000696705.1:c.*664T>G	ENSP00000512824.1:n.*664T>G
ENST00000422285.7:c.*36T>G MANE Select	ENSP00000394382.2:n.*36T>G
ENST00000379804.1:c.*36T>G	ENSP00000369132.1:n.*36T>G
ENST00000379806.9:c.*36T>G	ENSP00000369134.5:n.*36T>G
ENST00000422285.6:c.*36T>G	ENSP00000394382.2:n.*36T>G
ENST00000478795.1:n.648T>G
ENST00000540249.5:c.*36T>G	ENSP00000440761.1:n.*36T>G
ENST00000545074.5:c.*36T>G	ENSP00000438550.1:n.*36T>G
NM_000284.3:c.*36T>G	NP_000275.1:n.*36T>G
NM_001173454.1:c.*36T>G	NP_001166925.1:n.*36T>G
NM_001173455.1:c.*36T>G	NP_001166926.1:n.*36T>G
NM_001173456.1:c.*36T>G	NP_001166927.1:n.*36T>G
XM_011545531.1:c.*36T>G	XP_011543833.1:n.*36T>G
XM_011545532.1:c.*36T>G	XP_011543834.1:n.*36T>G
XM_017029574.2:c.*36T>G	XP_016885063.1:n.*36T>G
NM_000284.4:c.*36T>G MANE Select	NP_000275.1:n.*36T>G
NM_001173454.2:c.*36T>G	NP_001166925.1:n.*36T>G
NM_001173455.2:c.*36T>G	NP_001166926.1:n.*36T>G
NM_001173456.2:c.*36T>G	NP_001166927.1:n.*36T>G