Canonical Allele Identifier: CA7177735

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50247074T>C , CM000676.2:g.50247074T>C	GRCh38
NC_000014.8:g.50713792T>C , CM000676.1:g.50713792T>C	GRCh37
NC_000014.7:g.49783542T>C	NCBI36
NG_008092.1:g.70156A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.1376A>G MANE Select	NP_079160.1:p.Gln459Arg
ENST00000267436.9:c.1376A>G MANE Select	ENSP00000267436.4:p.Gln459Arg
NM_024884.2:c.1376A>G	NP_079160.1:p.Gln459Arg
ENST00000261699.8:c.1197-9349A>G	ENSP00000261699.4:n.1197-9349A>G
ENST00000267436.8:c.1376A>G	ENSP00000267436.4:p.Gln459Arg
ENST00000421284.7:c.1376A>G	ENSP00000405559.3:p.Gln459Arg
XM_005268075.3:c.1376A>G	XP_005268132.1:p.Gln459Arg
XM_005268075.5:c.1376A>G	XP_005268132.1:p.Gln459Arg
XM_011537166.1:c.1265A>G	XP_011535468.1:p.Gln422Arg
XM_011537166.3:c.1265A>G	XP_011535468.1:p.Gln422Arg
XM_011537167.1:c.1241A>G	XP_011535469.1:p.Gln414Arg
XM_011537167.3:c.1241A>G	XP_011535469.1:p.Gln414Arg
XM_011537168.1:c.830A>G	XP_011535470.1:p.Gln277Arg
XM_011537168.3:c.830A>G	XP_011535470.1:p.Gln277Arg
XM_011537169.1:c.830A>G	XP_011535471.1:p.Gln277Arg
XM_017021655.2:c.1265A>G	XP_016877144.1:p.Gln422Arg
XM_017021656.2:c.830A>G	XP_016877145.1:p.Gln277Arg
XM_017021657.2:c.830A>G	XP_016877146.1:p.Gln277Arg