Canonical Allele Identifier: CA358630505
Community Standard Title: NM_004744.5(LRAT):c.348C>G (p.Phe116Leu)
Gene: LRAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154744674C>G , CM000666.2:g.154744674C>G GRCh38
NC_000004.11:g.155665826C>G , CM000666.1:g.155665826C>G GRCh37
NC_000004.10:g.155885276C>G NCBI36
NG_009110.1:g.5664C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004744.5:c.348C>G MANE Select NP_004735.2:p.Phe116Leu
ENST00000336356.4:c.348C>G MANE Select ENSP00000337224.3:p.Phe116Leu
NM_001301645.1:c.348C>G NP_001288574.1:p.Phe116Leu
NM_001301645.2:c.348C>G NP_001288574.1:p.Phe116Leu
NM_004744.4:c.348C>G NP_004735.2:p.Phe116Leu
ENST00000336356.3:c.348C>G ENSP00000337224.3:p.Phe116Leu
ENST00000499392.1:n.472-3515C>G
ENST00000507827.5:c.348C>G ENSP00000426761.1:p.Phe116Leu
ENST00000510733.1:n.675C>G
XM_006714412.2:c.348C>G XP_006714475.1:p.Phe116Leu
XR_938793.1:n.684C>G
XR_938793.2:n.680C>G