Canonical Allele Identifier: CA389650115

Gene: L2HGDH

Linked Data

• MyVariant Identifiers: chr14:g.50735886A>C (hg19) ; chr14:g.50269168A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50269168A>C , CM000676.2:g.50269168A>C	GRCh38
NC_000014.8:g.50735886A>C , CM000676.1:g.50735886A>C	GRCh37
NC_000014.7:g.49805636A>C	NCBI36
NG_008092.1:g.48062T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267436.9:c.901T>G MANE Select	ENSP00000267436.4:p.Tyr301Asp
ENST00000261699.8:c.901T>G	ENSP00000261699.4:p.Tyr301Asp
ENST00000267436.8:c.901T>G	ENSP00000267436.4:p.Tyr301Asp
ENST00000421284.7:c.901T>G	ENSP00000405559.3:p.Tyr301Asp
NM_024884.2:c.901T>G	NP_079160.1:p.Tyr301Asp
XM_005268075.3:c.901T>G	XP_005268132.1:p.Tyr301Asp
XM_011537166.1:c.790T>G	XP_011535468.1:p.Tyr264Asp
XM_011537167.1:c.766T>G	XP_011535469.1:p.Tyr256Asp
XM_011537168.1:c.355T>G	XP_011535470.1:p.Tyr119Asp
XM_011537169.1:c.355T>G	XP_011535471.1:p.Tyr119Asp
XM_005268075.5:c.901T>G	XP_005268132.1:p.Tyr301Asp
XM_011537166.3:c.790T>G	XP_011535468.1:p.Tyr264Asp
XM_011537167.3:c.766T>G	XP_011535469.1:p.Tyr256Asp
XM_011537168.3:c.355T>G	XP_011535470.1:p.Tyr119Asp
XM_017021655.2:c.790T>G	XP_016877144.1:p.Tyr264Asp
XM_017021656.2:c.355T>G	XP_016877145.1:p.Tyr119Asp
XM_017021657.2:c.355T>G	XP_016877146.1:p.Tyr119Asp
NM_024884.3:c.901T>G MANE Select	NP_079160.1:p.Tyr301Asp