Canonical Allele Identifier: CA7177952

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50283942C>A , CM000676.2:g.50283942C>A	GRCh38
NC_000014.8:g.50750660C>A , CM000676.1:g.50750660C>A	GRCh37
NC_000014.7:g.49820410C>A	NCBI36
NG_008092.1:g.33288G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.632G>T MANE Select	NP_079160.1:p.Gly211Val
ENST00000267436.9:c.632G>T MANE Select	ENSP00000267436.4:p.Gly211Val
NM_024884.2:c.632G>T	NP_079160.1:p.Gly211Val
ENST00000261699.8:c.632G>T	ENSP00000261699.4:p.Gly211Val
ENST00000267436.8:c.632G>T	ENSP00000267436.4:p.Gly211Val
ENST00000421284.7:c.632G>T	ENSP00000405559.3:p.Gly211Val
ENST00000555423.5:c.632G>T	ENSP00000450494.1:p.Gly211Val
ENST00000555610.1:c.*75G>T	ENSP00000452483.1:n.*75G>T
XM_005268075.3:c.632G>T	XP_005268132.1:p.Gly211Val
XM_005268075.5:c.632G>T	XP_005268132.1:p.Gly211Val
XM_011537166.1:c.521G>T	XP_011535468.1:p.Gly174Val
XM_011537166.3:c.521G>T	XP_011535468.1:p.Gly174Val
XM_011537167.1:c.497G>T	XP_011535469.1:p.Gly166Val
XM_011537167.3:c.497G>T	XP_011535469.1:p.Gly166Val
XM_011537168.1:c.86G>T	XP_011535470.1:p.Gly29Val
XM_011537168.3:c.86G>T	XP_011535470.1:p.Gly29Val
XM_011537169.1:c.86G>T	XP_011535471.1:p.Gly29Val
XM_017021655.2:c.521G>T	XP_016877144.1:p.Gly174Val
XM_017021656.2:c.86G>T	XP_016877145.1:p.Gly29Val
XM_017021657.2:c.86G>T	XP_016877146.1:p.Gly29Val
XM_017021658.1:c.632G>T	XP_016877147.1:p.Gly211Val
XR_943538.1:n.871G>T