Canonical Allele Identifier: CA3115915
Community Standard Title: NM_004744.5(LRAT):c.611C>T (p.Ala204Val)
Gene: LRAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154749054C>T , CM000666.2:g.154749054C>T GRCh38
NC_000004.11:g.155670206C>T , CM000666.1:g.155670206C>T GRCh37
NC_000004.10:g.155889656C>T NCBI36
NG_009110.1:g.10044C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004744.5:c.611C>T MANE Select NP_004735.2:p.Ala204Val
ENST00000336356.4:c.611C>T MANE Select ENSP00000337224.3:p.Ala204Val
NM_001301645.1:c.611C>T NP_001288574.1:p.Ala204Val
NM_001301645.2:c.611C>T NP_001288574.1:p.Ala204Val
NM_004744.4:c.611C>T NP_004735.2:p.Ala204Val
ENST00000336356.3:c.611C>T ENSP00000337224.3:p.Ala204Val
ENST00000502474.5:n.406C>T
ENST00000507827.5:c.611C>T ENSP00000426761.1:p.Ala204Val
ENST00000510733.1:n.938C>T
ENST00000510919.1:n.367C>T
XM_006714412.2:c.611C>T XP_006714475.1:p.Ala204Val
XR_938793.1:n.1147C>T
XR_938793.2:n.1143C>T