Canonical Allele Identifier: CA343307065
Gene: ITLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881974T>C , CM000663.2:g.160881974T>C GRCh38
NC_000001.10:g.160851764T>C , CM000663.1:g.160851764T>C GRCh37
NC_000001.9:g.159118388T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.388A>G MANE Select ENSP00000323587.3:p.Thr130Ala
ENST00000326245.3:c.388A>G ENSP00000323587.3:p.Thr130Ala
ENST00000464077.1:n.322A>G
NM_017625.2:c.388A>G NP_060095.2:p.Thr130Ala
NM_017625.3:c.388A>G MANE Select NP_060095.2:p.Thr130Ala