Canonical Allele Identifier: CA389652541

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50278549G>A , CM000676.2:g.50278549G>A	GRCh38
NC_000014.8:g.50745267G>A , CM000676.1:g.50745267G>A	GRCh37
NC_000014.7:g.49815017G>A	NCBI36
NG_008092.1:g.38681C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.709C>T MANE Select	NP_079160.1:p.Gln237Ter
ENST00000267436.9:c.709C>T MANE Select	ENSP00000267436.4:p.Gln237Ter
NM_024884.2:c.709C>T	NP_079160.1:p.Gln237Ter
ENST00000261699.8:c.709C>T	ENSP00000261699.4:p.Gln237Ter
ENST00000267436.8:c.709C>T	ENSP00000267436.4:p.Gln237Ter
ENST00000421284.7:c.709C>T	ENSP00000405559.3:p.Gln237Ter
XM_005268075.3:c.709C>T	XP_005268132.1:p.Gln237Ter
XM_005268075.5:c.709C>T	XP_005268132.1:p.Gln237Ter
XM_011537166.1:c.598C>T	XP_011535468.1:p.Gln200Ter
XM_011537166.3:c.598C>T	XP_011535468.1:p.Gln200Ter
XM_011537167.1:c.574C>T	XP_011535469.1:p.Gln192Ter
XM_011537167.3:c.574C>T	XP_011535469.1:p.Gln192Ter
XM_011537168.1:c.163C>T	XP_011535470.1:p.Gln55Ter
XM_011537168.3:c.163C>T	XP_011535470.1:p.Gln55Ter
XM_011537169.1:c.163C>T	XP_011535471.1:p.Gln55Ter
XM_017021655.2:c.598C>T	XP_016877144.1:p.Gln200Ter
XM_017021656.2:c.163C>T	XP_016877145.1:p.Gln55Ter
XM_017021657.2:c.163C>T	XP_016877146.1:p.Gln55Ter
XR_943538.1:n.1040C>T