Canonical Allele Identifier: CA436403068
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972565A>G , CM000665.2:g.150972565A>G GRCh38
NC_000003.11:g.150690352A>G , CM000665.1:g.150690352A>G GRCh37
NC_000003.10:g.152173042A>G NCBI36
NG_009168.1:g.5435T>C , LRG_700:g.5435T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.144T>C MANE Select ENSP00000322280.1:p.Asn48=
ENST00000468836.2:c.120T>C ENSP00000419892.2:p.Asn40=
ENST00000327047.5:c.144T>C ENSP00000322280.1:p.Asn48=
ENST00000328863.8:c.144T>C ENSP00000329158.4:p.Asn48=
ENST00000468836.1:c.-257T>C ENSP00000419892.1:n.-257T>C
ENST00000472224.1:n.150T>C
NM_001195794.1:c.144T>C , LRG_700t1:c.144T>C NP_001182723.1:p.Asn48=
NM_001256819.1:c.144T>C NP_001243748.1:p.Asn48=
NM_174878.2:c.144T>C NP_777367.1:p.Asn48=
NR_046380.2:n.435T>C
XR_924167.1:n.456T>C
NM_001256819.2:c.144T>C NP_001243748.1:p.Asn48=
NM_174878.3:c.144T>C MANE Select NP_777367.1:p.Asn48=
NR_046380.3:n.163T>C