Canonical Allele Identifier: CA376757892

Gene: OGDHL

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49750849T>G , CM000672.2:g.49750849T>G	GRCh38
NC_000010.10:g.50958895T>G , CM000672.1:g.50958895T>G	GRCh37
NC_000010.9:g.50628901T>G	NCBI36
NG_052636.1:g.16531A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374103.9:c.886A>C MANE Select	ENSP00000363216.4:p.Met296Leu
ENST00000374103.8:c.886A>C	ENSP00000363216.4:p.Met296Leu
ENST00000419399.4:c.715A>C	ENSP00000401356.1:p.Met239Leu
ENST00000432695.2:c.259A>C	ENSP00000390240.1:p.Met87Leu
NM_001143996.1:c.715A>C	NP_001137468.1:p.Met239Leu
NM_001143997.1:c.259A>C	NP_001137469.1:p.Met87Leu
NM_018245.2:c.886A>C	NP_060715.2:p.Met296Leu
XM_011539946.1:c.886A>C	XP_011538248.1:p.Met296Leu
XM_011539947.1:c.886A>C	XP_011538249.1:p.Met296Leu
XM_011539948.1:c.886A>C	XP_011538250.1:p.Met296Leu
XM_011539949.1:c.886A>C	XP_011538251.1:p.Met296Leu
NM_001347819.1:c.886A>C	NP_001334748.1:p.Met296Leu
NM_001347820.1:c.715A>C	NP_001334749.1:p.Met239Leu
NM_001347821.1:c.259A>C	NP_001334750.1:p.Met87Leu
NM_001347822.1:c.259A>C	NP_001334751.1:p.Met87Leu
NM_001347823.1:c.886A>C	NP_001334752.1:p.Met296Leu
NM_001347824.1:c.886A>C	NP_001334753.1:p.Met296Leu
NM_001347825.1:c.259A>C	NP_001334754.1:p.Met87Leu
NM_001347826.1:c.-41A>C	NP_001334755.1:n.-41A>C
NR_144682.1:n.857A>C
NR_144683.1:n.1028A>C
NR_144684.1:n.857A>C
NR_144685.1:n.652A>C
NR_144686.1:n.1028A>C
XM_011539946.2:c.886A>C	XP_011538248.1:p.Met296Leu
XM_017016402.1:c.-159A>C	XP_016871891.1:n.-159A>C
XM_017016403.1:c.-41A>C	XP_016871892.1:n.-41A>C
NM_018245.3:c.886A>C MANE Select	NP_060715.2:p.Met296Leu
NM_001347821.2:c.259A>C	NP_001334750.1:p.Met87Leu
NM_001347824.2:c.886A>C	NP_001334753.1:p.Met296Leu
NM_001347825.2:c.259A>C	NP_001334754.1:p.Met87Leu
NR_144682.2:n.801A>C
NR_144683.2:n.972A>C
NR_144684.2:n.801A>C
NR_144685.2:n.596A>C
NR_144686.2:n.972A>C
NM_001143996.2:c.715A>C	NP_001137468.1:p.Met239Leu
NM_001143997.2:c.259A>C	NP_001137469.1:p.Met87Leu