Canonical Allele Identifier: CA389650134

Gene: L2HGDH

Linked Data

• MyVariant Identifiers: chr14:g.50735888A>T (hg19) ; chr14:g.50269170A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50269170A>T , CM000676.2:g.50269170A>T	GRCh38
NC_000014.8:g.50735888A>T , CM000676.1:g.50735888A>T	GRCh37
NC_000014.7:g.49805638A>T	NCBI36
NG_008092.1:g.48060T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267436.9:c.899T>A MANE Select	ENSP00000267436.4:p.Ile300Asn
ENST00000261699.8:c.899T>A	ENSP00000261699.4:p.Ile300Asn
ENST00000267436.8:c.899T>A	ENSP00000267436.4:p.Ile300Asn
ENST00000421284.7:c.899T>A	ENSP00000405559.3:p.Ile300Asn
NM_024884.2:c.899T>A	NP_079160.1:p.Ile300Asn
XM_005268075.3:c.899T>A	XP_005268132.1:p.Ile300Asn
XM_011537166.1:c.788T>A	XP_011535468.1:p.Ile263Asn
XM_011537167.1:c.764T>A	XP_011535469.1:p.Ile255Asn
XM_011537168.1:c.353T>A	XP_011535470.1:p.Ile118Asn
XM_011537169.1:c.353T>A	XP_011535471.1:p.Ile118Asn
XM_005268075.5:c.899T>A	XP_005268132.1:p.Ile300Asn
XM_011537166.3:c.788T>A	XP_011535468.1:p.Ile263Asn
XM_011537167.3:c.764T>A	XP_011535469.1:p.Ile255Asn
XM_011537168.3:c.353T>A	XP_011535470.1:p.Ile118Asn
XM_017021655.2:c.788T>A	XP_016877144.1:p.Ile263Asn
XM_017021656.2:c.353T>A	XP_016877145.1:p.Ile118Asn
XM_017021657.2:c.353T>A	XP_016877146.1:p.Ile118Asn
NM_024884.3:c.899T>A MANE Select	NP_079160.1:p.Ile300Asn