Canonical Allele Identifier: CA389658919

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50302057T>C , CM000676.2:g.50302057T>C	GRCh38
NC_000014.8:g.50768775T>C , CM000676.1:g.50768775T>C	GRCh37
NC_000014.7:g.49838525T>C	NCBI36
NG_008092.1:g.15173A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.368A>G MANE Select	NP_079160.1:p.Tyr123Cys
ENST00000267436.9:c.368A>G MANE Select	ENSP00000267436.4:p.Tyr123Cys
NM_024884.2:c.368A>G	NP_079160.1:p.Tyr123Cys
ENST00000261699.8:c.368A>G	ENSP00000261699.4:p.Tyr123Cys
ENST00000267436.8:c.368A>G	ENSP00000267436.4:p.Tyr123Cys
ENST00000421284.7:c.368A>G	ENSP00000405559.3:p.Tyr123Cys
ENST00000554191.5:c.*231A>G	ENSP00000451194.1:n.*231A>G
ENST00000555423.5:c.368A>G	ENSP00000450494.1:p.Tyr123Cys
ENST00000555610.1:c.368A>G	ENSP00000452483.1:p.Tyr123Cys
ENST00000556393.1:n.508A>G
XM_005268075.3:c.368A>G	XP_005268132.1:p.Tyr123Cys
XM_005268075.5:c.368A>G	XP_005268132.1:p.Tyr123Cys
XM_011537166.1:c.257A>G	XP_011535468.1:p.Tyr86Cys
XM_011537166.3:c.257A>G	XP_011535468.1:p.Tyr86Cys
XM_011537167.1:c.233A>G	XP_011535469.1:p.Tyr78Cys
XM_011537167.3:c.233A>G	XP_011535469.1:p.Tyr78Cys
XM_017021655.2:c.257A>G	XP_016877144.1:p.Tyr86Cys
XM_017021656.2:c.-258A>G	XP_016877145.1:n.-258A>G
XM_017021657.2:c.-258A>G	XP_016877146.1:n.-258A>G
XM_017021658.1:c.368A>G	XP_016877147.1:p.Tyr123Cys
XR_943538.1:n.607A>G