Canonical Allele Identifier: CA152421561
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs945024779
gnomAD v2: 7-1273712-A-C
gnomAD v3: 7-1234076-A-C
gnomAD v4: 7-1234076-A-C
MyVariant Identifiers: chr7:g.1273712A>C (hg19) chr7:g.1273712_1273713delinsCC (hg19) chr7:g.1234076A>C (hg38) chr7:g.1234076_1234077delinsCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234076A>C , CM000669.2:g.1234076A>C GRCh38
NC_000007.13:g.1273712A>C , CM000669.1:g.1273712A>C GRCh37
NC_000007.12:g.1240238A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+381A>C MANE Select ENSP00000314480.8:n.450+381A>C
ENST00000316333.8:c.450+381A>C ENSP00000314480.8:n.450+381A>C
NM_001080461.1:c.450+381A>C NP_001073930.1:n.450+381A>C
NM_001080461.2:c.450+381A>C NP_001073930.1:n.450+381A>C
NM_001080461.3:c.450+381A>C MANE Select NP_001073930.1:n.450+381A>C
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