Canonical Allele Identifier: CA152421782
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs942168075
gnomAD v3: 7-1234200-G-C
gnomAD v4: 7-1234200-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234200G>C , CM000669.2:g.1234200G>C GRCh38
NC_000007.13:g.1273836G>C , CM000669.1:g.1273836G>C GRCh37
NC_000007.12:g.1240362G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+505G>C MANE Select ENSP00000314480.8:n.450+505G>C
ENST00000316333.8:c.450+505G>C ENSP00000314480.8:n.450+505G>C
NM_001080461.1:c.450+505G>C NP_001073930.1:n.450+505G>C
NM_001080461.2:c.450+505G>C NP_001073930.1:n.450+505G>C
NM_001080461.3:c.450+505G>C MANE Select NP_001073930.1:n.450+505G>C