Canonical Allele Identifier: CA7989979
Community Standard Title: NM_001014987.2(LAT):c.375C>G (p.Asp125Glu)
Gene: LAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28986691C>G , CM000678.2:g.28986691C>G GRCh38
NC_000016.9:g.28998012C>G , CM000678.1:g.28998012C>G GRCh37
NC_000016.8:g.28905513C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001014987.2:c.375C>G MANE Select NP_001014987.1:p.Asp125Glu
ENST00000395456.7:c.375C>G MANE Select ENSP00000378841.3:p.Asp125Glu
NM_001014987.1:c.375C>G NP_001014987.1:p.Asp125Glu
NM_001014988.1:c.372C>G NP_001014988.1:p.Asp124Glu
NM_001014988.2:c.372C>G NP_001014988.1:p.Asp124Glu
NM_001014989.1:c.483C>G NP_001014989.2:p.Asp161Glu
NM_001014989.2:c.483C>G NP_001014989.2:p.Asp161Glu
NM_014387.3:c.462C>G NP_055202.1:p.Asp154Glu
NM_014387.4:c.462C>G NP_055202.1:p.Asp154Glu
ENST00000354453.7:n.784C>G
ENST00000360872.9:c.462C>G ENSP00000354119.5:p.Asp154Glu
ENST00000395456.6:c.375C>G ENSP00000378841.2:p.Asp125Glu
ENST00000395461.7:c.483C>G ENSP00000378845.3:p.Asp161Glu
ENST00000454369.6:c.372C>G ENSP00000398793.2:p.Asp124Glu
ENST00000562701.5:c.489C>G ENSP00000454793.1:n.489C>G
ENST00000563964.5:n.642C>G
ENST00000564277.5:c.372C>G ENSP00000457036.1:p.Asp124Glu
ENST00000566177.5:c.459C>G ENSP00000456761.1:p.Asp153Glu
ENST00000568440.1:n.413C>G
ENST00000568899.5:n.259C>G
ENST00000570232.2:c.135C>G ENSP00000455728.1:p.Asp45Glu
ENST00000697038.1:n.628C>G