Canonical Allele Identifier: CA2543939153
Gene: ITLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881731G>T , CM000663.2:g.160881731G>T GRCh38
NC_000001.10:g.160851521G>T , CM000663.1:g.160851521G>T GRCh37
NC_000001.9:g.159118145G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.405+226C>A MANE Select ENSP00000323587.3:n.405+226C>A
ENST00000326245.3:c.405+226C>A ENSP00000323587.3:n.405+226C>A
ENST00000464077.1:n.339+226C>A
NM_017625.2:c.405+226C>A NP_060095.2:n.405+226C>A
NM_017625.3:c.405+226C>A MANE Select NP_060095.2:n.405+226C>A
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