Canonical Allele Identifier: CA7178104

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50302998C>T , CM000676.2:g.50302998C>T	GRCh38
NC_000014.8:g.50769716C>T , CM000676.1:g.50769716C>T	GRCh37
NC_000014.7:g.49839466C>T	NCBI36
NG_008092.1:g.14232G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.160G>A MANE Select	NP_079160.1:p.Val54Ile
ENST00000267436.9:c.160G>A MANE Select	ENSP00000267436.4:p.Val54Ile
NM_024884.2:c.160G>A	NP_079160.1:p.Val54Ile
ENST00000261699.8:c.160G>A	ENSP00000261699.4:p.Val54Ile
ENST00000267436.8:c.160G>A	ENSP00000267436.4:p.Val54Ile
ENST00000421284.7:c.160G>A	ENSP00000405559.3:p.Val54Ile
ENST00000554191.5:c.*23G>A	ENSP00000451194.1:n.*23G>A
ENST00000555423.5:c.160G>A	ENSP00000450494.1:p.Val54Ile
ENST00000555610.1:c.160G>A	ENSP00000452483.1:p.Val54Ile
ENST00000556393.1:n.300G>A
XM_005268075.3:c.160G>A	XP_005268132.1:p.Val54Ile
XM_005268075.5:c.160G>A	XP_005268132.1:p.Val54Ile
XM_011537166.1:c.49G>A	XP_011535468.1:p.Val17Ile
XM_011537166.3:c.49G>A	XP_011535468.1:p.Val17Ile
XM_011537167.1:c.25G>A	XP_011535469.1:p.Val9Ile
XM_011537167.3:c.25G>A	XP_011535469.1:p.Val9Ile
XM_017021655.2:c.49G>A	XP_016877144.1:p.Val17Ile
XM_017021656.2:c.-466G>A	XP_016877145.1:n.-466G>A
XM_017021657.2:c.-466G>A	XP_016877146.1:n.-466G>A
XM_017021658.1:c.160G>A	XP_016877147.1:p.Val54Ile
XR_943538.1:n.399G>A