Canonical Allele Identifier: CA237436223
Gene: COPZ1 HGNC NCBI

Linked Data

dbSNP Id: rs10876550

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54318524G>A , CM000674.2:g.54318524G>A GRCh38
NC_000012.11:g.54712308G>A , CM000674.1:g.54712308G>A GRCh37
NC_000012.10:g.52998575G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000548076.5:n.161+17144G>A
ENST00000552848.5:c.-81-6559G>A ENSP00000449414.1:n.-81-6559G>A