Canonical Allele Identifier: CA343307266
Gene: ITLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882066C>A , CM000663.2:g.160882066C>A GRCh38
NC_000001.10:g.160851856C>A , CM000663.1:g.160851856C>A GRCh37
NC_000001.9:g.159118480C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.296G>T MANE Select ENSP00000323587.3:p.Arg99Leu
ENST00000326245.3:c.296G>T ENSP00000323587.3:p.Arg99Leu
ENST00000464077.1:n.230G>T
NM_017625.2:c.296G>T NP_060095.2:p.Arg99Leu
NM_017625.3:c.296G>T MANE Select NP_060095.2:p.Arg99Leu