Canonical Allele Identifier: CA395440427

Gene: LAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28986383A>G , CM000678.2:g.28986383A>G	GRCh38
NC_000016.9:g.28997704A>G , CM000678.1:g.28997704A>G	GRCh37
NC_000016.8:g.28905205A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001014987.2:c.247A>G MANE Select	NP_001014987.1:p.Arg83Gly
ENST00000395456.7:c.247A>G MANE Select	ENSP00000378841.3:p.Arg83Gly
NM_001014987.1:c.247A>G	NP_001014987.1:p.Arg83Gly
NM_001014988.1:c.246-2A>G	NP_001014988.1:n.246-2A>G
NM_001014988.2:c.246-2A>G	NP_001014988.1:n.246-2A>G
NM_001014989.1:c.355A>G	NP_001014989.2:p.Arg119Gly
NM_001014989.2:c.355A>G	NP_001014989.2:p.Arg119Gly
NM_014387.3:c.247A>G	NP_055202.1:p.Arg83Gly
NM_014387.4:c.247A>G	NP_055202.1:p.Arg83Gly
ENST00000354453.7:n.599A>G
ENST00000360872.9:c.247A>G	ENSP00000354119.5:p.Arg83Gly
ENST00000395456.6:c.247A>G	ENSP00000378841.2:p.Arg83Gly
ENST00000395461.7:c.355A>G	ENSP00000378845.3:p.Arg119Gly
ENST00000454369.6:c.246-2A>G	ENSP00000398793.2:n.246-2A>G
ENST00000562701.5:c.274A>G	ENSP00000454793.1:n.274A>G
ENST00000563964.5:n.516-2A>G
ENST00000564277.5:c.246-2A>G	ENSP00000457036.1:n.246-2A>G
ENST00000566177.5:c.246-2A>G	ENSP00000456761.1:n.246-2A>G
ENST00000568440.1:n.285A>G
ENST00000568899.5:n.131A>G
ENST00000570232.2:c.7A>G	ENSP00000455728.1:p.Arg3Gly
ENST00000697038.1:n.500A>G