Canonical Allele Identifier: CA2668196633
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150926346C>T , CM000665.2:g.150926346C>T GRCh38
NC_000003.11:g.150644133C>T , CM000665.1:g.150644133C>T GRCh37
NC_000003.10:g.152126823C>T NCBI36
NG_009168.1:g.51654G>A , LRG_700:g.51654G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295911.6:c.*506G>A ENSP00000295911.2:n.*506G>A
ENST00000562308.5:c.104+15236G>A
ENST00000565169.1:c.162+15236G>A
ENST00000569170.5:c.162+15236G>A
NM_052995.2:c.*506G>A , LRG_700t2:c.*506G>A NP_443721.1:n.*506G>A
XR_924167.1:n.2601G>A