Canonical Allele Identifier: CA2668198793
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972382C>A , CM000665.2:g.150972382C>A GRCh38
NC_000003.11:g.150690169C>A , CM000665.1:g.150690169C>A GRCh37
NC_000003.10:g.152172859C>A NCBI36
NG_009168.1:g.5618G>T , LRG_700:g.5618G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.253+74G>T MANE Select ENSP00000322280.1:n.253+74G>T
ENST00000468836.2:c.229+74G>T ENSP00000419892.2:n.229+74G>T
ENST00000644099.1:c.94+74G>T ENSP00000494762.1:n.94+74G>T
ENST00000645441.1:c.95+74G>T
ENST00000327047.5:c.253+74G>T ENSP00000322280.1:n.253+74G>T
ENST00000328863.8:c.253+74G>T ENSP00000329158.4:n.253+74G>T
ENST00000468836.1:c.-148+74G>T ENSP00000419892.1:n.-148+74G>T
ENST00000472224.1:n.259+74G>T
NM_001195794.1:c.253+74G>T , LRG_700t1:c.253+74G>T NP_001182723.1:n.253+74G>T
NM_001256819.1:c.253+74G>T NP_001243748.1:n.253+74G>T
NM_174878.2:c.253+74G>T NP_777367.1:n.253+74G>T
NR_046380.2:n.544+74G>T
XR_924167.1:n.565+74G>T
NM_001256819.2:c.253+74G>T NP_001243748.1:n.253+74G>T
NM_174878.3:c.253+74G>T MANE Select NP_777367.1:n.253+74G>T
NR_046380.3:n.272+74G>T