Canonical Allele Identifier: CA389650149

Gene: L2HGDH

Linked Data

• MyVariant Identifiers: chr14:g.50735890A>T (hg19) ; chr14:g.50269172A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50269172A>T , CM000676.2:g.50269172A>T	GRCh38
NC_000014.8:g.50735890A>T , CM000676.1:g.50735890A>T	GRCh37
NC_000014.7:g.49805640A>T	NCBI36
NG_008092.1:g.48058T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267436.9:c.897T>A MANE Select	ENSP00000267436.4:p.Asn299Lys
ENST00000261699.8:c.897T>A	ENSP00000261699.4:p.Asn299Lys
ENST00000267436.8:c.897T>A	ENSP00000267436.4:p.Asn299Lys
ENST00000421284.7:c.897T>A	ENSP00000405559.3:p.Asn299Lys
NM_024884.2:c.897T>A	NP_079160.1:p.Asn299Lys
XM_005268075.3:c.897T>A	XP_005268132.1:p.Asn299Lys
XM_011537166.1:c.786T>A	XP_011535468.1:p.Asn262Lys
XM_011537167.1:c.762T>A	XP_011535469.1:p.Asn254Lys
XM_011537168.1:c.351T>A	XP_011535470.1:p.Asn117Lys
XM_011537169.1:c.351T>A	XP_011535471.1:p.Asn117Lys
XM_005268075.5:c.897T>A	XP_005268132.1:p.Asn299Lys
XM_011537166.3:c.786T>A	XP_011535468.1:p.Asn262Lys
XM_011537167.3:c.762T>A	XP_011535469.1:p.Asn254Lys
XM_011537168.3:c.351T>A	XP_011535470.1:p.Asn117Lys
XM_017021655.2:c.786T>A	XP_016877144.1:p.Asn262Lys
XM_017021656.2:c.351T>A	XP_016877145.1:p.Asn117Lys
XM_017021657.2:c.351T>A	XP_016877146.1:p.Asn117Lys
NM_024884.3:c.897T>A MANE Select	NP_079160.1:p.Asn299Lys