Canonical Allele Identifier: CA389650124

Gene: L2HGDH

Linked Data

• MyVariant Identifiers: chr14:g.50735887A>C (hg19) ; chr14:g.50269169A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50269169A>C , CM000676.2:g.50269169A>C	GRCh38
NC_000014.8:g.50735887A>C , CM000676.1:g.50735887A>C	GRCh37
NC_000014.7:g.49805637A>C	NCBI36
NG_008092.1:g.48061T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267436.9:c.900T>G MANE Select	ENSP00000267436.4:p.Ile300Met
ENST00000261699.8:c.900T>G	ENSP00000261699.4:p.Ile300Met
ENST00000267436.8:c.900T>G	ENSP00000267436.4:p.Ile300Met
ENST00000421284.7:c.900T>G	ENSP00000405559.3:p.Ile300Met
NM_024884.2:c.900T>G	NP_079160.1:p.Ile300Met
XM_005268075.3:c.900T>G	XP_005268132.1:p.Ile300Met
XM_011537166.1:c.789T>G	XP_011535468.1:p.Ile263Met
XM_011537167.1:c.765T>G	XP_011535469.1:p.Ile255Met
XM_011537168.1:c.354T>G	XP_011535470.1:p.Ile118Met
XM_011537169.1:c.354T>G	XP_011535471.1:p.Ile118Met
XM_005268075.5:c.900T>G	XP_005268132.1:p.Ile300Met
XM_011537166.3:c.789T>G	XP_011535468.1:p.Ile263Met
XM_011537167.3:c.765T>G	XP_011535469.1:p.Ile255Met
XM_011537168.3:c.354T>G	XP_011535470.1:p.Ile118Met
XM_017021655.2:c.789T>G	XP_016877144.1:p.Ile263Met
XM_017021656.2:c.354T>G	XP_016877145.1:p.Ile118Met
XM_017021657.2:c.354T>G	XP_016877146.1:p.Ile118Met
NM_024884.3:c.900T>G MANE Select	NP_079160.1:p.Ile300Met