Canonical Allele Identifier: CA412394436

Gene: PDHA1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355394C>G , CM000685.2:g.19355394C>G	GRCh38
NC_000023.10:g.19373512C>G , CM000685.1:g.19373512C>G	GRCh37
NC_000023.9:g.19283433C>G	NCBI36
NG_016781.1:g.16502C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.670C>G	ENSP00000348062.6:p.Pro224Ala
ENST00000379805.4:c.*341C>G	ENSP00000369133.3:n.*341C>G
ENST00000417819.6:c.733C>G	ENSP00000404616.2:p.Pro245Ala
ENST00000423505.6:c.763C>G	ENSP00000406473.2:p.Pro255Ala
ENST00000481733.2:n.444C>G
ENST00000696704.1:c.464C>G	ENSP00000512823.1:p.Thr155Ser
ENST00000696705.1:c.*104C>G	ENSP00000512824.1:n.*104C>G
ENST00000422285.7:c.649C>G MANE Select	ENSP00000394382.2:p.Pro217Ala
ENST00000379806.9:c.763C>G	ENSP00000369134.5:p.Pro255Ala
ENST00000422285.6:c.649C>G	ENSP00000394382.2:p.Pro217Ala
ENST00000479146.1:n.484C>G
ENST00000481733.1:n.77C>G
ENST00000540249.5:c.556C>G	ENSP00000440761.1:p.Pro186Ala
ENST00000545074.5:c.670C>G	ENSP00000438550.1:p.Pro224Ala
NM_000284.3:c.649C>G	NP_000275.1:p.Pro217Ala
NM_001173454.1:c.763C>G	NP_001166925.1:p.Pro255Ala
NM_001173455.1:c.670C>G	NP_001166926.1:p.Pro224Ala
NM_001173456.1:c.556C>G	NP_001166927.1:p.Pro186Ala
XM_011545531.1:c.784C>G	XP_011543833.1:p.Pro262Ala
XM_011545532.1:c.691C>G	XP_011543834.1:p.Pro231Ala
XM_017029574.2:c.670C>G	XP_016885063.1:p.Pro224Ala
NM_000284.4:c.649C>G MANE Select	NP_000275.1:p.Pro217Ala
NM_001173454.2:c.763C>G	NP_001166925.1:p.Pro255Ala
NM_001173455.2:c.670C>G	NP_001166926.1:p.Pro224Ala
NM_001173456.2:c.556C>G	NP_001166927.1:p.Pro186Ala