Canonical Allele Identifier: CA343307247
Gene: ITLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882057C>A , CM000663.2:g.160882057C>A GRCh38
NC_000001.10:g.160851847C>A , CM000663.1:g.160851847C>A GRCh37
NC_000001.9:g.159118471C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.305G>T MANE Select ENSP00000323587.3:p.Ser102Ile
ENST00000326245.3:c.305G>T ENSP00000323587.3:p.Ser102Ile
ENST00000464077.1:n.239G>T
NM_017625.2:c.305G>T NP_060095.2:p.Ser102Ile
NM_017625.3:c.305G>T MANE Select NP_060095.2:p.Ser102Ile