Canonical Allele Identifier: CA152421812
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs188618554
gnomAD v2: 7-1273914-A-T
gnomAD v3: 7-1234278-A-T
gnomAD v4: 7-1234278-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234278A>T , CM000669.2:g.1234278A>T GRCh38
NC_000007.13:g.1273914A>T , CM000669.1:g.1273914A>T GRCh37
NC_000007.12:g.1240440A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+583A>T MANE Select ENSP00000314480.8:n.450+583A>T
ENST00000316333.8:c.450+583A>T ENSP00000314480.8:n.450+583A>T
NM_001080461.1:c.450+583A>T NP_001073930.1:n.450+583A>T
NM_001080461.2:c.450+583A>T NP_001073930.1:n.450+583A>T
NM_001080461.3:c.450+583A>T MANE Select NP_001073930.1:n.450+583A>T