Canonical Allele Identifier: CA572109203
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1195313441
gnomAD v2: 7-1273736-T-C
gnomAD v3: 7-1234100-T-C
gnomAD v4: 7-1234100-T-C
MyVariant Identifiers: chr7:g.1273736T>C (hg19) chr7:g.1234100T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234100T>C , CM000669.2:g.1234100T>C GRCh38
NC_000007.13:g.1273736T>C , CM000669.1:g.1273736T>C GRCh37
NC_000007.12:g.1240262T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+405T>C MANE Select ENSP00000314480.8:n.450+405T>C
ENST00000316333.8:c.450+405T>C ENSP00000314480.8:n.450+405T>C
NM_001080461.1:c.450+405T>C NP_001073930.1:n.450+405T>C
NM_001080461.2:c.450+405T>C NP_001073930.1:n.450+405T>C
NM_001080461.3:c.450+405T>C MANE Select NP_001073930.1:n.450+405T>C
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