Canonical Allele Identifier: CA832638486
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1280677993
MyVariant Identifiers: chr7:g.1273583G>C (hg19) chr7:g.1233947G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1233947G>C , CM000669.2:g.1233947G>C GRCh38
NC_000007.13:g.1273583G>C , CM000669.1:g.1273583G>C GRCh37
NC_000007.12:g.1240109G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316333.9:c.450+252G>C MANE Select ENSP00000314480.8:n.450+252G>C
ENST00000316333.8:c.450+252G>C ENSP00000314480.8:n.450+252G>C
NM_001080461.1:c.450+252G>C NP_001073930.1:n.450+252G>C
NM_001080461.2:c.450+252G>C NP_001073930.1:n.450+252G>C
NM_001080461.3:c.450+252G>C MANE Select NP_001073930.1:n.450+252G>C
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