Canonical Allele Identifier: CA1097509822
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1778703190
gnomAD v3: 7-1234333-T-C
gnomAD v4: 7-1234333-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234333T>C , CM000669.2:g.1234333T>C GRCh38
NC_000007.13:g.1273969T>C , CM000669.1:g.1273969T>C GRCh37
NC_000007.12:g.1240495T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316333.9:c.450+638T>C MANE Select ENSP00000314480.8:n.450+638T>C
ENST00000316333.8:c.450+638T>C ENSP00000314480.8:n.450+638T>C
NM_001080461.1:c.450+638T>C NP_001073930.1:n.450+638T>C
NM_001080461.2:c.450+638T>C NP_001073930.1:n.450+638T>C
NM_001080461.3:c.450+638T>C MANE Select NP_001073930.1:n.450+638T>C