Canonical Allele Identifier: CA832638656
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1347473507
gnomAD v3: 7-1234335-C-T
gnomAD v4: 7-1234335-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234335C>T , CM000669.2:g.1234335C>T GRCh38
NC_000007.13:g.1273971C>T , CM000669.1:g.1273971C>T GRCh37
NC_000007.12:g.1240497C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316333.9:c.450+640C>T MANE Select ENSP00000314480.8:n.450+640C>T
ENST00000316333.8:c.450+640C>T ENSP00000314480.8:n.450+640C>T
NM_001080461.1:c.450+640C>T NP_001073930.1:n.450+640C>T
NM_001080461.2:c.450+640C>T NP_001073930.1:n.450+640C>T
NM_001080461.3:c.450+640C>T MANE Select NP_001073930.1:n.450+640C>T