Canonical Allele Identifier: CA389650153

Gene: L2HGDH

Linked Data

• MyVariant Identifiers: chr14:g.50735891T>A (hg19) ; chr14:g.50269173T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50269173T>A , CM000676.2:g.50269173T>A	GRCh38
NC_000014.8:g.50735891T>A , CM000676.1:g.50735891T>A	GRCh37
NC_000014.7:g.49805641T>A	NCBI36
NG_008092.1:g.48057A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267436.9:c.896A>T MANE Select	ENSP00000267436.4:p.Asn299Ile
ENST00000261699.8:c.896A>T	ENSP00000261699.4:p.Asn299Ile
ENST00000267436.8:c.896A>T	ENSP00000267436.4:p.Asn299Ile
ENST00000421284.7:c.896A>T	ENSP00000405559.3:p.Asn299Ile
NM_024884.2:c.896A>T	NP_079160.1:p.Asn299Ile
XM_005268075.3:c.896A>T	XP_005268132.1:p.Asn299Ile
XM_011537166.1:c.785A>T	XP_011535468.1:p.Asn262Ile
XM_011537167.1:c.761A>T	XP_011535469.1:p.Asn254Ile
XM_011537168.1:c.350A>T	XP_011535470.1:p.Asn117Ile
XM_011537169.1:c.350A>T	XP_011535471.1:p.Asn117Ile
XM_005268075.5:c.896A>T	XP_005268132.1:p.Asn299Ile
XM_011537166.3:c.785A>T	XP_011535468.1:p.Asn262Ile
XM_011537167.3:c.761A>T	XP_011535469.1:p.Asn254Ile
XM_011537168.3:c.350A>T	XP_011535470.1:p.Asn117Ile
XM_017021655.2:c.785A>T	XP_016877144.1:p.Asn262Ile
XM_017021656.2:c.350A>T	XP_016877145.1:p.Asn117Ile
XM_017021657.2:c.350A>T	XP_016877146.1:p.Asn117Ile
NM_024884.3:c.896A>T MANE Select	NP_079160.1:p.Asn299Ile