Canonical Allele Identifier: CA572109202
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1488684946
gnomAD v2: 7-1273735-C-A
MyVariant Identifiers: chr7:g.1273735C>A (hg19) chr7:g.1234099C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234099C>A , CM000669.2:g.1234099C>A GRCh38
NC_000007.13:g.1273735C>A , CM000669.1:g.1273735C>A GRCh37
NC_000007.12:g.1240261C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+404C>A MANE Select ENSP00000314480.8:n.450+404C>A
ENST00000316333.8:c.450+404C>A ENSP00000314480.8:n.450+404C>A
NM_001080461.1:c.450+404C>A NP_001073930.1:n.450+404C>A
NM_001080461.2:c.450+404C>A NP_001073930.1:n.450+404C>A
NM_001080461.3:c.450+404C>A MANE Select NP_001073930.1:n.450+404C>A
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