Canonical Allele Identifier: CA412393830

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19354491G>A , CM000685.2:g.19354491G>A	GRCh38
NC_000023.10:g.19372609G>A , CM000685.1:g.19372609G>A	GRCh37
NC_000023.9:g.19282530G>A	NCBI36
NG_016781.1:g.15599G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000284.4:c.511G>A MANE Select	NP_000275.1:p.Val171Met
ENST00000422285.7:c.511G>A MANE Select	ENSP00000394382.2:p.Val171Met
NM_000284.3:c.511G>A	NP_000275.1:p.Val171Met
NM_001173454.1:c.625G>A	NP_001166925.1:p.Val209Met
NM_001173454.2:c.625G>A	NP_001166925.1:p.Val209Met
NM_001173455.1:c.532G>A	NP_001166926.1:p.Val178Met
NM_001173455.2:c.532G>A	NP_001166926.1:p.Val178Met
NM_001173456.1:c.511-858G>A	NP_001166927.1:n.511-858G>A
NM_001173456.2:c.511-858G>A	NP_001166927.1:n.511-858G>A
ENST00000355808.10:c.532G>A	ENSP00000348062.6:p.Val178Met
ENST00000355808.9:c.532G>A	ENSP00000348062.5:p.Val178Met
ENST00000379805.4:c.*203G>A	ENSP00000369133.3:n.*203G>A
ENST00000379806.9:c.625G>A	ENSP00000369134.5:p.Val209Met
ENST00000417819.6:c.595G>A	ENSP00000404616.2:p.Val199Met
ENST00000422285.6:c.511G>A	ENSP00000394382.2:p.Val171Met
ENST00000423505.6:c.625G>A	ENSP00000406473.2:p.Val209Met
ENST00000479146.1:n.346G>A
ENST00000540249.5:c.511-858G>A	ENSP00000440761.1:n.511-858G>A
ENST00000545074.5:c.532G>A	ENSP00000438550.1:p.Val178Met
ENST00000696704.1:c.419-858G>A	ENSP00000512823.1:n.419-858G>A
ENST00000696705.1:c.419G>A	ENSP00000512824.1:p.Gly140Asp
XM_011545531.1:c.646G>A	XP_011543833.1:p.Val216Met
XM_011545532.1:c.646-858G>A	XP_011543834.1:n.646-858G>A
XM_017029574.2:c.625-858G>A	XP_016885063.1:n.625-858G>A