Canonical Allele Identifier: CA343307080
Gene: ITLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881982T>G , CM000663.2:g.160881982T>G GRCh38
NC_000001.10:g.160851772T>G , CM000663.1:g.160851772T>G GRCh37
NC_000001.9:g.159118396T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.380A>C MANE Select ENSP00000323587.3:p.Glu127Ala
ENST00000326245.3:c.380A>C ENSP00000323587.3:p.Glu127Ala
ENST00000464077.1:n.314A>C
NM_017625.2:c.380A>C NP_060095.2:p.Glu127Ala
NM_017625.3:c.380A>C MANE Select NP_060095.2:p.Glu127Ala