Canonical Allele Identifier: CA12553356

Gene: UNCX

Linked Data

• dbSNP Id: rs10275044
• gnomAD v2: 7-1273845-A-T
• gnomAD v3: 7-1234209-A-T
• gnomAD v4: 7-1234209-A-T
• MyVariant Identifiers: chr7:g.1273845A>T (hg19) ; chr7:g.1234209A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1234209A>T , CM000669.2:g.1234209A>T	GRCh38
NC_000007.13:g.1273845A>T , CM000669.1:g.1273845A>T	GRCh37
NC_000007.12:g.1240371A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000316333.9:c.450+514A>T MANE Select	ENSP00000314480.8:n.450+514A>T
ENST00000316333.8:c.450+514A>T	ENSP00000314480.8:n.450+514A>T
NM_001080461.1:c.450+514A>T	NP_001073930.1:n.450+514A>T
NM_001080461.2:c.450+514A>T	NP_001073930.1:n.450+514A>T
NM_001080461.3:c.450+514A>T MANE Select	NP_001073930.1:n.450+514A>T