Canonical Allele Identifier: CA2668196637
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150926350C>T , CM000665.2:g.150926350C>T GRCh38
NC_000003.11:g.150644137C>T , CM000665.1:g.150644137C>T GRCh37
NC_000003.10:g.152126827C>T NCBI36
NG_009168.1:g.51650G>A , LRG_700:g.51650G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295911.6:c.*502G>A ENSP00000295911.2:n.*502G>A
ENST00000562308.5:c.104+15232G>A
ENST00000565169.1:c.162+15232G>A
ENST00000569170.5:c.162+15232G>A
NM_052995.2:c.*502G>A , LRG_700t2:c.*502G>A NP_443721.1:n.*502G>A
XR_924167.1:n.2597G>A