Canonical Allele Identifier: CA343307370
Gene: ITLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882115C>G , CM000663.2:g.160882115C>G GRCh38
NC_000001.10:g.160851905C>G , CM000663.1:g.160851905C>G GRCh37
NC_000001.9:g.159118529C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.247G>C MANE Select ENSP00000323587.3:p.Ala83Pro
ENST00000326245.3:c.247G>C ENSP00000323587.3:p.Ala83Pro
ENST00000464077.1:n.181G>C
NM_017625.2:c.247G>C NP_060095.2:p.Ala83Pro
NM_017625.3:c.247G>C MANE Select NP_060095.2:p.Ala83Pro