Canonical Allele Identifier: CA1202696
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs769308793

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.296G>A MANE Select ENSP00000323587.3:p.Arg99His
ENST00000326245.3:c.296G>A ENSP00000323587.3:p.Arg99His
ENST00000464077.1:n.230G>A
NM_017625.2:c.296G>A NP_060095.2:p.Arg99His
NM_017625.3:c.296G>A MANE Select NP_060095.2:p.Arg99His