Canonical Allele Identifier: CA436403055

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150972559-T-G
• MyVariant Identifiers: chr3:g.150690346T>G (hg19)

Genomic Alleles

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

Transcript Alleles

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