Canonical Allele Identifier: CA152421668

Gene: UNCX

Linked Data

• dbSNP Id: rs989920663
• gnomAD v3: 7-1234112-G-C
• gnomAD v4: 7-1234112-G-C
• MyVariant Identifiers: chr7:g.1273748G>C (hg19) ; chr7:g.1234112G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1234112G>C , CM000669.2:g.1234112G>C	GRCh38
NC_000007.13:g.1273748G>C , CM000669.1:g.1273748G>C	GRCh37
NC_000007.12:g.1240274G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000316333.9:c.450+417G>C MANE Select	ENSP00000314480.8:n.450+417G>C
ENST00000316333.8:c.450+417G>C	ENSP00000314480.8:n.450+417G>C
NM_001080461.1:c.450+417G>C	NP_001073930.1:n.450+417G>C
NM_001080461.2:c.450+417G>C	NP_001073930.1:n.450+417G>C
NM_001080461.3:c.450+417G>C MANE Select	NP_001073930.1:n.450+417G>C