Canonical Allele Identifier: CA343307091
Gene: ITLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881988G>T , CM000663.2:g.160881988G>T GRCh38
NC_000001.10:g.160851778G>T , CM000663.1:g.160851778G>T GRCh37
NC_000001.9:g.159118402G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.374C>A MANE Select ENSP00000323587.3:p.Ser125Tyr
ENST00000326245.3:c.374C>A ENSP00000323587.3:p.Ser125Tyr
ENST00000464077.1:n.308C>A
NM_017625.2:c.374C>A NP_060095.2:p.Ser125Tyr
NM_017625.3:c.374C>A MANE Select NP_060095.2:p.Ser125Tyr