Canonical Allele Identifier: CA572109175

Gene: UNCX

Linked Data

• dbSNP Id: rs1356449465
• gnomAD v2: 7-1273676-C-G
• gnomAD v3: 7-1234040-C-G
• gnomAD v4: 7-1234040-C-G
• MyVariant Identifiers: chr7:g.1273676C>G (hg19) ; chr7:g.1234040C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1234040C>G , CM000669.2:g.1234040C>G	GRCh38
NC_000007.13:g.1273676C>G , CM000669.1:g.1273676C>G	GRCh37
NC_000007.12:g.1240202C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316333.9:c.450+345C>G MANE Select	ENSP00000314480.8:n.450+345C>G
ENST00000316333.8:c.450+345C>G	ENSP00000314480.8:n.450+345C>G
NM_001080461.1:c.450+345C>G	NP_001073930.1:n.450+345C>G
NM_001080461.2:c.450+345C>G	NP_001073930.1:n.450+345C>G
NM_001080461.3:c.450+345C>G MANE Select	NP_001073930.1:n.450+345C>G