Canonical Allele Identifier: CA412393848

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19354495C>T , CM000685.2:g.19354495C>T	GRCh38
NC_000023.10:g.19372613C>T , CM000685.1:g.19372613C>T	GRCh37
NC_000023.9:g.19282534C>T	NCBI36
NG_016781.1:g.15603C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000284.4:c.515C>T MANE Select	NP_000275.1:p.Pro172Leu
ENST00000422285.7:c.515C>T MANE Select	ENSP00000394382.2:p.Pro172Leu
NM_000284.3:c.515C>T	NP_000275.1:p.Pro172Leu
NM_001173454.1:c.629C>T	NP_001166925.1:p.Pro210Leu
NM_001173454.2:c.629C>T	NP_001166925.1:p.Pro210Leu
NM_001173455.1:c.536C>T	NP_001166926.1:p.Pro179Leu
NM_001173455.2:c.536C>T	NP_001166926.1:p.Pro179Leu
NM_001173456.1:c.511-854C>T	NP_001166927.1:n.511-854C>T
NM_001173456.2:c.511-854C>T	NP_001166927.1:n.511-854C>T
ENST00000355808.10:c.536C>T	ENSP00000348062.6:p.Pro179Leu
ENST00000355808.9:c.536C>T	ENSP00000348062.5:p.Pro179Leu
ENST00000379805.4:c.*207C>T	ENSP00000369133.3:n.*207C>T
ENST00000379806.9:c.629C>T	ENSP00000369134.5:p.Pro210Leu
ENST00000417819.6:c.599C>T	ENSP00000404616.2:p.Pro200Leu
ENST00000422285.6:c.515C>T	ENSP00000394382.2:p.Pro172Leu
ENST00000423505.6:c.629C>T	ENSP00000406473.2:p.Pro210Leu
ENST00000479146.1:n.350C>T
ENST00000540249.5:c.511-854C>T	ENSP00000440761.1:n.511-854C>T
ENST00000545074.5:c.536C>T	ENSP00000438550.1:p.Pro179Leu
ENST00000696704.1:c.419-854C>T	ENSP00000512823.1:n.419-854C>T
ENST00000696705.1:c.423C>T	ENSP00000512824.1:p.Ala141=
XM_011545531.1:c.650C>T	XP_011543833.1:p.Pro217Leu
XM_011545532.1:c.646-854C>T	XP_011543834.1:n.646-854C>T
XM_017029574.2:c.625-854C>T	XP_016885063.1:n.625-854C>T