Canonical Allele Identifier: CA7178041

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50302003A>G , CM000676.2:g.50302003A>G	GRCh38
NC_000014.8:g.50768721A>G , CM000676.1:g.50768721A>G	GRCh37
NC_000014.7:g.49838471A>G	NCBI36
NG_008092.1:g.15227T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.408+14T>C MANE Select	NP_079160.1:n.408+14T>C
ENST00000267436.9:c.408+14T>C MANE Select	ENSP00000267436.4:n.408+14T>C
NM_024884.2:c.408+14T>C	NP_079160.1:n.408+14T>C
ENST00000261699.8:c.408+14T>C	ENSP00000261699.4:n.408+14T>C
ENST00000267436.8:c.408+14T>C	ENSP00000267436.4:n.408+14T>C
ENST00000421284.7:c.408+14T>C	ENSP00000405559.3:n.408+14T>C
ENST00000554191.5:c.*271+14T>C	ENSP00000451194.1:n.*271+14T>C
ENST00000555423.5:c.408+14T>C	ENSP00000450494.1:n.408+14T>C
ENST00000555610.1:c.408+14T>C	ENSP00000452483.1:n.408+14T>C
XM_005268075.3:c.408+14T>C	XP_005268132.1:n.408+14T>C
XM_005268075.5:c.408+14T>C	XP_005268132.1:n.408+14T>C
XM_011537166.1:c.297+14T>C	XP_011535468.1:n.297+14T>C
XM_011537166.3:c.297+14T>C	XP_011535468.1:n.297+14T>C
XM_011537167.1:c.273+14T>C	XP_011535469.1:n.273+14T>C
XM_011537167.3:c.273+14T>C	XP_011535469.1:n.273+14T>C
XM_017021655.2:c.297+14T>C	XP_016877144.1:n.297+14T>C
XM_017021656.2:c.-218+14T>C	XP_016877145.1:n.-218+14T>C
XM_017021657.2:c.-218+14T>C	XP_016877146.1:n.-218+14T>C
XM_017021658.1:c.408+14T>C	XP_016877147.1:n.408+14T>C
XR_943538.1:n.647+14T>C