Canonical Allele Identifier: CA486175905

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50278520C>T , CM000676.2:g.50278520C>T	GRCh38
NC_000014.8:g.50745238C>T , CM000676.1:g.50745238C>T	GRCh37
NC_000014.7:g.49814988C>T	NCBI36
NG_008092.1:g.38710G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.738G>A MANE Select	NP_079160.1:p.Lys246=
ENST00000267436.9:c.738G>A MANE Select	ENSP00000267436.4:p.Lys246=
NM_024884.2:c.738G>A	NP_079160.1:p.Lys246=
ENST00000261699.8:c.738G>A	ENSP00000261699.4:p.Lys246=
ENST00000267436.8:c.738G>A	ENSP00000267436.4:p.Lys246=
ENST00000421284.7:c.738G>A	ENSP00000405559.3:p.Lys246=
XM_005268075.3:c.738G>A	XP_005268132.1:p.Lys246=
XM_005268075.5:c.738G>A	XP_005268132.1:p.Lys246=
XM_011537166.1:c.627G>A	XP_011535468.1:p.Lys209=
XM_011537166.3:c.627G>A	XP_011535468.1:p.Lys209=
XM_011537167.1:c.603G>A	XP_011535469.1:p.Lys201=
XM_011537167.3:c.603G>A	XP_011535469.1:p.Lys201=
XM_011537168.1:c.192G>A	XP_011535470.1:p.Lys64=
XM_011537168.3:c.192G>A	XP_011535470.1:p.Lys64=
XM_011537169.1:c.192G>A	XP_011535471.1:p.Lys64=
XM_017021655.2:c.627G>A	XP_016877144.1:p.Lys209=
XM_017021656.2:c.192G>A	XP_016877145.1:p.Lys64=
XM_017021657.2:c.192G>A	XP_016877146.1:p.Lys64=
XR_943538.1:n.1069G>A