Canonical Allele Identifier: CA1616315968
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1760298242
gnomAD v3: 6-24146016-G-A
gnomAD v4: 6-24146016-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24146016G>A , CM000668.2:g.24146016G>A GRCh38
NC_000006.11:g.24146244G>A , CM000668.1:g.24146244G>A GRCh37
NC_000006.10:g.24254223G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*70G>A MANE Select ENSP00000367752.4:n.*70G>A
ENST00000378478.5:c.*70G>A ENSP00000367739.2:n.*70G>A
ENST00000378491.8:c.*70G>A ENSP00000367752.4:n.*70G>A
ENST00000468195.2:n.257-8755G>A
NM_080723.4:c.*70G>A NP_542454.3:n.*70G>A
NM_080723.5:c.*70G>A MANE Select NP_542454.3:n.*70G>A