Canonical Allele Identifier: CA412393247

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353128G>A , CM000685.2:g.19353128G>A	GRCh38
NC_000023.10:g.19371246G>A , CM000685.1:g.19371246G>A	GRCh37
NC_000023.9:g.19281167G>A	NCBI36
NG_016781.1:g.14236G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000284.4:c.465G>A MANE Select	NP_000275.1:p.Met155Ile
ENST00000422285.7:c.465G>A MANE Select	ENSP00000394382.2:p.Met155Ile
NM_000284.3:c.465G>A	NP_000275.1:p.Met155Ile
NM_001173454.1:c.579G>A	NP_001166925.1:p.Met193Ile
NM_001173454.2:c.579G>A	NP_001166925.1:p.Met193Ile
NM_001173455.1:c.486G>A	NP_001166926.1:p.Met162Ile
NM_001173455.2:c.486G>A	NP_001166926.1:p.Met162Ile
NM_001173456.1:c.465G>A	NP_001166927.1:p.Met155Ile
NM_001173456.2:c.465G>A	NP_001166927.1:p.Met155Ile
ENST00000355808.10:c.486G>A	ENSP00000348062.6:p.Met162Ile
ENST00000355808.9:c.486G>A	ENSP00000348062.5:p.Met162Ile
ENST00000379805.3:c.465G>A	ENSP00000369133.3:p.Met155Ile
ENST00000379805.4:c.465G>A	ENSP00000369133.3:p.Met155Ile
ENST00000379806.9:c.579G>A	ENSP00000369134.5:p.Met193Ile
ENST00000417819.6:c.549G>A	ENSP00000404616.2:p.Met183Ile
ENST00000422285.6:c.465G>A	ENSP00000394382.2:p.Met155Ile
ENST00000423505.5:c.579G>A	ENSP00000406473.1:p.Met193Ile
ENST00000423505.6:c.579G>A	ENSP00000406473.2:p.Met193Ile
ENST00000479146.1:n.300G>A
ENST00000540249.5:c.465G>A	ENSP00000440761.1:p.Met155Ile
ENST00000545074.5:c.486G>A	ENSP00000438550.1:p.Met162Ile
ENST00000696704.1:c.418+1721G>A	ENSP00000512823.1:n.418+1721G>A
ENST00000696705.1:c.419-1363G>A	ENSP00000512824.1:n.419-1363G>A
XM_011545531.1:c.600G>A	XP_011543833.1:p.Met200Ile
XM_011545532.1:c.600G>A	XP_011543834.1:p.Met200Ile
XM_017029574.2:c.579G>A	XP_016885063.1:p.Met193Ile