Canonical Allele Identifier: CA2668198797
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972390A>G , CM000665.2:g.150972390A>G GRCh38
NC_000003.11:g.150690177A>G , CM000665.1:g.150690177A>G GRCh37
NC_000003.10:g.152172867A>G NCBI36
NG_009168.1:g.5610T>C , LRG_700:g.5610T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.253+66T>C MANE Select ENSP00000322280.1:n.253+66T>C
ENST00000468836.2:c.229+66T>C ENSP00000419892.2:n.229+66T>C
ENST00000644099.1:c.94+66T>C ENSP00000494762.1:n.94+66T>C
ENST00000645441.1:c.95+66T>C
ENST00000327047.5:c.253+66T>C ENSP00000322280.1:n.253+66T>C
ENST00000328863.8:c.253+66T>C ENSP00000329158.4:n.253+66T>C
ENST00000468836.1:c.-148+66T>C ENSP00000419892.1:n.-148+66T>C
ENST00000472224.1:n.259+66T>C
NM_001195794.1:c.253+66T>C , LRG_700t1:c.253+66T>C NP_001182723.1:n.253+66T>C
NM_001256819.1:c.253+66T>C NP_001243748.1:n.253+66T>C
NM_174878.2:c.253+66T>C NP_777367.1:n.253+66T>C
NR_046380.2:n.544+66T>C
XR_924167.1:n.565+66T>C
NM_001256819.2:c.253+66T>C NP_001243748.1:n.253+66T>C
NM_174878.3:c.253+66T>C MANE Select NP_777367.1:n.253+66T>C
NR_046380.3:n.272+66T>C