Canonical Allele Identifier: CA572109176
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1778694671
gnomAD v2: 7-1273707-A-G
gnomAD v3: 7-1234071-A-G
gnomAD v4: 7-1234071-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234071A>G , CM000669.2:g.1234071A>G GRCh38
NC_000007.13:g.1273707A>G , CM000669.1:g.1273707A>G GRCh37
NC_000007.12:g.1240233A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+376A>G MANE Select ENSP00000314480.8:n.450+376A>G
ENST00000316333.8:c.450+376A>G ENSP00000314480.8:n.450+376A>G
NM_001080461.1:c.450+376A>G NP_001073930.1:n.450+376A>G
NM_001080461.2:c.450+376A>G NP_001073930.1:n.450+376A>G
NM_001080461.3:c.450+376A>G MANE Select NP_001073930.1:n.450+376A>G