Canonical Allele Identifier: CA343307084
Gene: ITLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881985G>A , CM000663.2:g.160881985G>A GRCh38
NC_000001.10:g.160851775G>A , CM000663.1:g.160851775G>A GRCh37
NC_000001.9:g.159118399G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.377C>T MANE Select ENSP00000323587.3:p.Ala126Val
ENST00000326245.3:c.377C>T ENSP00000323587.3:p.Ala126Val
ENST00000464077.1:n.311C>T
NM_017625.2:c.377C>T NP_060095.2:p.Ala126Val
NM_017625.3:c.377C>T MANE Select NP_060095.2:p.Ala126Val