Canonical Allele Identifier: CA640521467

Gene: PDHA1

Linked Data

• dbSNP Id: rs1300942617
• gnomAD v2: X-19371129-T-G
• gnomAD v3: X-19353011-T-G
• gnomAD v4: X-19353011-T-G
• MyVariant Identifiers: chrX:g.19371129T>G (hg19) ; chrX:g.19353011T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353011T>G , CM000685.2:g.19353011T>G	GRCh38
NC_000023.10:g.19371129T>G , CM000685.1:g.19371129T>G	GRCh37
NC_000023.9:g.19281050T>G	NCBI36
NG_016781.1:g.14119T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.440-71T>G	ENSP00000348062.6:n.440-71T>G
ENST00000379805.4:c.419-71T>G	ENSP00000369133.3:n.419-71T>G
ENST00000417819.6:c.503-71T>G	ENSP00000404616.2:n.503-71T>G
ENST00000423505.6:c.533-71T>G	ENSP00000406473.2:n.533-71T>G
ENST00000696704.1:c.418+1604T>G	ENSP00000512823.1:n.418+1604T>G
ENST00000696705.1:c.419-1480T>G	ENSP00000512824.1:n.419-1480T>G
ENST00000422285.7:c.419-71T>G MANE Select	ENSP00000394382.2:n.419-71T>G
ENST00000355808.9:c.440-71T>G	ENSP00000348062.5:n.440-71T>G
ENST00000379805.3:c.419-71T>G	ENSP00000369133.3:n.419-71T>G
ENST00000379806.9:c.533-71T>G	ENSP00000369134.5:n.533-71T>G
ENST00000422285.6:c.419-71T>G	ENSP00000394382.2:n.419-71T>G
ENST00000423505.5:c.533-71T>G	ENSP00000406473.1:n.533-71T>G
ENST00000479146.1:n.183T>G
ENST00000540249.5:c.419-71T>G	ENSP00000440761.1:n.419-71T>G
ENST00000545074.5:c.440-71T>G	ENSP00000438550.1:n.440-71T>G
NM_000284.3:c.419-71T>G	NP_000275.1:n.419-71T>G
NM_001173454.1:c.533-71T>G	NP_001166925.1:n.533-71T>G
NM_001173455.1:c.440-71T>G	NP_001166926.1:n.440-71T>G
NM_001173456.1:c.419-71T>G	NP_001166927.1:n.419-71T>G
XM_011545531.1:c.554-71T>G	XP_011543833.1:n.554-71T>G
XM_011545532.1:c.554-71T>G	XP_011543834.1:n.554-71T>G
XM_017029574.2:c.533-71T>G	XP_016885063.1:n.533-71T>G
NM_000284.4:c.419-71T>G MANE Select	NP_000275.1:n.419-71T>G
NM_001173454.2:c.533-71T>G	NP_001166925.1:n.533-71T>G
NM_001173455.2:c.440-71T>G	NP_001166926.1:n.440-71T>G
NM_001173456.2:c.419-71T>G	NP_001166927.1:n.419-71T>G