Canonical Allele Identifier: CA152421621
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1007796574
gnomAD v3: 7-1234080-C-T
gnomAD v4: 7-1234080-C-T
MyVariant Identifiers: chr7:g.1234080C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234080C>T , CM000669.2:g.1234080C>T GRCh38
NC_000007.13:g.1273716C>T , CM000669.1:g.1273716C>T GRCh37
NC_000007.12:g.1240242C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+385C>T MANE Select ENSP00000314480.8:n.450+385C>T
ENST00000316333.8:c.450+385C>T ENSP00000314480.8:n.450+385C>T
NM_001080461.1:c.450+385C>T NP_001073930.1:n.450+385C>T
NM_001080461.2:c.450+385C>T NP_001073930.1:n.450+385C>T
NM_001080461.3:c.450+385C>T MANE Select NP_001073930.1:n.450+385C>T