Canonical Allele Identifier: CA343307364
Gene: ITLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882112T>G , CM000663.2:g.160882112T>G GRCh38
NC_000001.10:g.160851902T>G , CM000663.1:g.160851902T>G GRCh37
NC_000001.9:g.159118526T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.250A>C MANE Select ENSP00000323587.3:p.Ser84Arg
ENST00000326245.3:c.250A>C ENSP00000323587.3:p.Ser84Arg
ENST00000464077.1:n.184A>C
NM_017625.2:c.250A>C NP_060095.2:p.Ser84Arg
NM_017625.3:c.250A>C MANE Select NP_060095.2:p.Ser84Arg