Canonical Allele Identifier: CA566217962
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1429641594
gnomAD v2: 6-24146201-T-A
gnomAD v4: 6-24145973-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145973T>A , CM000668.2:g.24145973T>A GRCh38
NC_000006.11:g.24146201T>A , CM000668.1:g.24146201T>A GRCh37
NC_000006.10:g.24254180T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*27T>A MANE Select ENSP00000367752.4:n.*27T>A
ENST00000378478.5:c.*27T>A ENSP00000367739.2:n.*27T>A
ENST00000378491.8:c.*27T>A ENSP00000367752.4:n.*27T>A
ENST00000468195.2:n.257-8798T>A
NM_080723.4:c.*27T>A NP_542454.3:n.*27T>A
NM_080723.5:c.*27T>A MANE Select NP_542454.3:n.*27T>A