Canonical Allele Identifier: CA915413719
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs890669837
gnomAD v2: 7-1273714-C-T
gnomAD v3: 7-1234078-C-T
gnomAD v4: 7-1234078-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234078C>T , CM000669.2:g.1234078C>T GRCh38
NC_000007.13:g.1273714C>T , CM000669.1:g.1273714C>T GRCh37
NC_000007.12:g.1240240C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316333.9:c.450+383C>T MANE Select ENSP00000314480.8:n.450+383C>T
ENST00000316333.8:c.450+383C>T ENSP00000314480.8:n.450+383C>T
NM_001080461.1:c.450+383C>T NP_001073930.1:n.450+383C>T
NM_001080461.2:c.450+383C>T NP_001073930.1:n.450+383C>T
NM_001080461.3:c.450+383C>T MANE Select NP_001073930.1:n.450+383C>T
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