Canonical Allele Identifier: CA343307269
Gene: ITLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882067G>T , CM000663.2:g.160882067G>T GRCh38
NC_000001.10:g.160851857G>T , CM000663.1:g.160851857G>T GRCh37
NC_000001.9:g.159118481G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.295C>A MANE Select ENSP00000323587.3:p.Arg99Ser
ENST00000326245.3:c.295C>A ENSP00000323587.3:p.Arg99Ser
ENST00000464077.1:n.229C>A
NM_017625.2:c.295C>A NP_060095.2:p.Arg99Ser
NM_017625.3:c.295C>A MANE Select NP_060095.2:p.Arg99Ser