Canonical Allele Identifier: CA389659620

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50302980C>G , CM000676.2:g.50302980C>G	GRCh38
NC_000014.8:g.50769698C>G , CM000676.1:g.50769698C>G	GRCh37
NC_000014.7:g.49839448C>G	NCBI36
NG_008092.1:g.14250G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.178G>C MANE Select	NP_079160.1:p.Gly60Arg
ENST00000267436.9:c.178G>C MANE Select	ENSP00000267436.4:p.Gly60Arg
NM_024884.2:c.178G>C	NP_079160.1:p.Gly60Arg
ENST00000261699.8:c.178G>C	ENSP00000261699.4:p.Gly60Arg
ENST00000267436.8:c.178G>C	ENSP00000267436.4:p.Gly60Arg
ENST00000421284.7:c.178G>C	ENSP00000405559.3:p.Gly60Arg
ENST00000554191.5:c.*41G>C	ENSP00000451194.1:n.*41G>C
ENST00000555423.5:c.178G>C	ENSP00000450494.1:p.Gly60Arg
ENST00000555610.1:c.178G>C	ENSP00000452483.1:p.Gly60Arg
ENST00000556393.1:n.318G>C
XM_005268075.3:c.178G>C	XP_005268132.1:p.Gly60Arg
XM_005268075.5:c.178G>C	XP_005268132.1:p.Gly60Arg
XM_011537166.1:c.67G>C	XP_011535468.1:p.Gly23Arg
XM_011537166.3:c.67G>C	XP_011535468.1:p.Gly23Arg
XM_011537167.1:c.43G>C	XP_011535469.1:p.Gly15Arg
XM_011537167.3:c.43G>C	XP_011535469.1:p.Gly15Arg
XM_017021655.2:c.67G>C	XP_016877144.1:p.Gly23Arg
XM_017021656.2:c.-448G>C	XP_016877145.1:n.-448G>C
XM_017021657.2:c.-448G>C	XP_016877146.1:n.-448G>C
XM_017021658.1:c.178G>C	XP_016877147.1:p.Gly60Arg
XR_943538.1:n.417G>C