Canonical Allele Identifier: CA7178093

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50302932T>C , CM000676.2:g.50302932T>C	GRCh38
NC_000014.8:g.50769650T>C , CM000676.1:g.50769650T>C	GRCh37
NC_000014.7:g.49839400T>C	NCBI36
NG_008092.1:g.14298A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.226A>G MANE Select	NP_079160.1:p.Ile76Val
ENST00000267436.9:c.226A>G MANE Select	ENSP00000267436.4:p.Ile76Val
NM_024884.2:c.226A>G	NP_079160.1:p.Ile76Val
ENST00000261699.8:c.226A>G	ENSP00000261699.4:p.Ile76Val
ENST00000267436.8:c.226A>G	ENSP00000267436.4:p.Ile76Val
ENST00000421284.7:c.226A>G	ENSP00000405559.3:p.Ile76Val
ENST00000554191.5:c.*89A>G	ENSP00000451194.1:n.*89A>G
ENST00000555423.5:c.226A>G	ENSP00000450494.1:p.Ile76Val
ENST00000555610.1:c.226A>G	ENSP00000452483.1:p.Ile76Val
ENST00000556393.1:n.366A>G
XM_005268075.3:c.226A>G	XP_005268132.1:p.Ile76Val
XM_005268075.5:c.226A>G	XP_005268132.1:p.Ile76Val
XM_011537166.1:c.115A>G	XP_011535468.1:p.Ile39Val
XM_011537166.3:c.115A>G	XP_011535468.1:p.Ile39Val
XM_011537167.1:c.91A>G	XP_011535469.1:p.Ile31Val
XM_011537167.3:c.91A>G	XP_011535469.1:p.Ile31Val
XM_017021655.2:c.115A>G	XP_016877144.1:p.Ile39Val
XM_017021656.2:c.-400A>G	XP_016877145.1:n.-400A>G
XM_017021657.2:c.-400A>G	XP_016877146.1:n.-400A>G
XM_017021658.1:c.226A>G	XP_016877147.1:p.Ile76Val
XR_943538.1:n.465A>G