Canonical Allele Identifier: CA2553186759
Gene: UNCX HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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