Canonical Allele Identifier: CA7177896

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50269317C>T , CM000676.2:g.50269317C>T	GRCh38
NC_000014.8:g.50736035C>T , CM000676.1:g.50736035C>T	GRCh37
NC_000014.7:g.49805785C>T	NCBI36
NG_008092.1:g.47913G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.752G>A MANE Select	NP_079160.1:p.Arg251Gln
ENST00000267436.9:c.752G>A MANE Select	ENSP00000267436.4:p.Arg251Gln
NM_024884.2:c.752G>A	NP_079160.1:p.Arg251Gln
ENST00000261699.8:c.752G>A	ENSP00000261699.4:p.Arg251Gln
ENST00000267436.8:c.752G>A	ENSP00000267436.4:p.Arg251Gln
ENST00000421284.7:c.752G>A	ENSP00000405559.3:p.Arg251Gln
XM_005268075.3:c.752G>A	XP_005268132.1:p.Arg251Gln
XM_005268075.5:c.752G>A	XP_005268132.1:p.Arg251Gln
XM_011537166.1:c.641G>A	XP_011535468.1:p.Arg214Gln
XM_011537166.3:c.641G>A	XP_011535468.1:p.Arg214Gln
XM_011537167.1:c.617G>A	XP_011535469.1:p.Arg206Gln
XM_011537167.3:c.617G>A	XP_011535469.1:p.Arg206Gln
XM_011537168.1:c.206G>A	XP_011535470.1:p.Arg69Gln
XM_011537168.3:c.206G>A	XP_011535470.1:p.Arg69Gln
XM_011537169.1:c.206G>A	XP_011535471.1:p.Arg69Gln
XM_017021655.2:c.641G>A	XP_016877144.1:p.Arg214Gln
XM_017021656.2:c.206G>A	XP_016877145.1:p.Arg69Gln
XM_017021657.2:c.206G>A	XP_016877146.1:p.Arg69Gln
XR_943538.1:n.1083G>A