Canonical Allele Identifier: CA152421632
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs796731627
gnomAD v2: 7-1273722-G-C
gnomAD v3: 7-1234086-G-C
gnomAD v4: 7-1234086-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234086G>C , CM000669.2:g.1234086G>C GRCh38
NC_000007.13:g.1273722G>C , CM000669.1:g.1273722G>C GRCh37
NC_000007.12:g.1240248G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316333.9:c.450+391G>C MANE Select ENSP00000314480.8:n.450+391G>C
ENST00000316333.8:c.450+391G>C ENSP00000314480.8:n.450+391G>C
NM_001080461.1:c.450+391G>C NP_001073930.1:n.450+391G>C
NM_001080461.2:c.450+391G>C NP_001073930.1:n.450+391G>C
NM_001080461.3:c.450+391G>C MANE Select NP_001073930.1:n.450+391G>C