Canonical Allele Identifier: CA1202697
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs370375904

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.295C>T MANE Select ENSP00000323587.3:p.Arg99Cys
ENST00000326245.3:c.295C>T ENSP00000323587.3:p.Arg99Cys
ENST00000464077.1:n.229C>T
NM_017625.2:c.295C>T NP_060095.2:p.Arg99Cys
NM_017625.3:c.295C>T MANE Select NP_060095.2:p.Arg99Cys