Canonical Allele Identifier: CA572109234
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1335134637
gnomAD v2: 7-1273859-G-A
gnomAD v3: 7-1234223-G-A
gnomAD v4: 7-1234223-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234223G>A , CM000669.2:g.1234223G>A GRCh38
NC_000007.13:g.1273859G>A , CM000669.1:g.1273859G>A GRCh37
NC_000007.12:g.1240385G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+528G>A MANE Select ENSP00000314480.8:n.450+528G>A
ENST00000316333.8:c.450+528G>A ENSP00000314480.8:n.450+528G>A
NM_001080461.1:c.450+528G>A NP_001073930.1:n.450+528G>A
NM_001080461.2:c.450+528G>A NP_001073930.1:n.450+528G>A
NM_001080461.3:c.450+528G>A MANE Select NP_001073930.1:n.450+528G>A