Canonical Allele Identifier: CA152421761
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs909387024
gnomAD v3: 7-1234199-C-T
gnomAD v4: 7-1234199-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234199C>T , CM000669.2:g.1234199C>T GRCh38
NC_000007.13:g.1273835C>T , CM000669.1:g.1273835C>T GRCh37
NC_000007.12:g.1240361C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+504C>T MANE Select ENSP00000314480.8:n.450+504C>T
ENST00000316333.8:c.450+504C>T ENSP00000314480.8:n.450+504C>T
NM_001080461.1:c.450+504C>T NP_001073930.1:n.450+504C>T
NM_001080461.2:c.450+504C>T NP_001073930.1:n.450+504C>T
NM_001080461.3:c.450+504C>T MANE Select NP_001073930.1:n.450+504C>T