Canonical Allele Identifier: CA436403054
Gene: CLRN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.150690346T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972559T>A , CM000665.2:g.150972559T>A GRCh38
NC_000003.11:g.150690346T>A , CM000665.1:g.150690346T>A GRCh37
NC_000003.10:g.152173036T>A NCBI36
NG_009168.1:g.5441A>T , LRG_700:g.5441A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.150A>T MANE Select ENSP00000322280.1:p.Ser50=
ENST00000468836.2:c.126A>T ENSP00000419892.2:p.Ser42=
ENST00000327047.5:c.150A>T ENSP00000322280.1:p.Ser50=
ENST00000328863.8:c.150A>T ENSP00000329158.4:p.Ser50=
ENST00000468836.1:c.-251A>T ENSP00000419892.1:n.-251A>T
ENST00000472224.1:n.156A>T
NM_001195794.1:c.150A>T , LRG_700t1:c.150A>T NP_001182723.1:p.Ser50=
NM_001256819.1:c.150A>T NP_001243748.1:p.Ser50=
NM_174878.2:c.150A>T NP_777367.1:p.Ser50=
NR_046380.2:n.441A>T
XR_924167.1:n.462A>T
NM_001256819.2:c.150A>T NP_001243748.1:p.Ser50=
NM_174878.3:c.150A>T MANE Select NP_777367.1:p.Ser50=
NR_046380.3:n.169A>T