Canonical Allele Identifier: CA31617324
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs988811933
gnomAD v2: 1-160851830-C-T
gnomAD v4: 1-160882040-C-T
MyVariant Identifiers: chr1:g.160851830C>T (hg19) chr1:g.160882040C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882040C>T , CM000663.2:g.160882040C>T GRCh38
NC_000001.10:g.160851830C>T , CM000663.1:g.160851830C>T GRCh37
NC_000001.9:g.159118454C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.322G>A MANE Select ENSP00000323587.3:p.Ala108Thr
ENST00000326245.3:c.322G>A ENSP00000323587.3:p.Ala108Thr
ENST00000464077.1:n.256G>A
NM_017625.2:c.322G>A NP_060095.2:p.Ala108Thr
NM_017625.3:c.322G>A MANE Select NP_060095.2:p.Ala108Thr
Search 100 bp 5'
Search 100 bp 3'