Canonical Allele Identifier: CA7177878

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50269239C>T , CM000676.2:g.50269239C>T	GRCh38
NC_000014.8:g.50735957C>T , CM000676.1:g.50735957C>T	GRCh37
NC_000014.7:g.49805707C>T	NCBI36
NG_008092.1:g.47991G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.830G>A MANE Select	NP_079160.1:p.Arg277Gln
ENST00000267436.9:c.830G>A MANE Select	ENSP00000267436.4:p.Arg277Gln
NM_024884.2:c.830G>A	NP_079160.1:p.Arg277Gln
ENST00000261699.8:c.830G>A	ENSP00000261699.4:p.Arg277Gln
ENST00000267436.8:c.830G>A	ENSP00000267436.4:p.Arg277Gln
ENST00000421284.7:c.830G>A	ENSP00000405559.3:p.Arg277Gln
XM_005268075.3:c.830G>A	XP_005268132.1:p.Arg277Gln
XM_005268075.5:c.830G>A	XP_005268132.1:p.Arg277Gln
XM_011537166.1:c.719G>A	XP_011535468.1:p.Arg240Gln
XM_011537166.3:c.719G>A	XP_011535468.1:p.Arg240Gln
XM_011537167.1:c.695G>A	XP_011535469.1:p.Arg232Gln
XM_011537167.3:c.695G>A	XP_011535469.1:p.Arg232Gln
XM_011537168.1:c.284G>A	XP_011535470.1:p.Arg95Gln
XM_011537168.3:c.284G>A	XP_011535470.1:p.Arg95Gln
XM_011537169.1:c.284G>A	XP_011535471.1:p.Arg95Gln
XM_017021655.2:c.719G>A	XP_016877144.1:p.Arg240Gln
XM_017021656.2:c.284G>A	XP_016877145.1:p.Arg95Gln
XM_017021657.2:c.284G>A	XP_016877146.1:p.Arg95Gln