Canonical Allele Identifier: CA358630499
Community Standard Title: NM_004744.5(LRAT):c.346T>C (p.Phe116Leu)
Gene: LRAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154744672T>C , CM000666.2:g.154744672T>C GRCh38
NC_000004.11:g.155665824T>C , CM000666.1:g.155665824T>C GRCh37
NC_000004.10:g.155885274T>C NCBI36
NG_009110.1:g.5662T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004744.5:c.346T>C MANE Select NP_004735.2:p.Phe116Leu
ENST00000336356.4:c.346T>C MANE Select ENSP00000337224.3:p.Phe116Leu
NM_001301645.1:c.346T>C NP_001288574.1:p.Phe116Leu
NM_001301645.2:c.346T>C NP_001288574.1:p.Phe116Leu
NM_004744.4:c.346T>C NP_004735.2:p.Phe116Leu
ENST00000336356.3:c.346T>C ENSP00000337224.3:p.Phe116Leu
ENST00000499392.1:n.472-3517T>C
ENST00000507827.5:c.346T>C ENSP00000426761.1:p.Phe116Leu
ENST00000510733.1:n.673T>C
XM_006714412.2:c.346T>C XP_006714475.1:p.Phe116Leu
XR_938793.1:n.682T>C
XR_938793.2:n.678T>C