Canonical Allele Identifier: CA3654341
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs780649931
gnomAD v2: 6-24145812-G-A
gnomAD v3: 6-24145584-G-A
gnomAD v4: 6-24145584-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145584G>A , CM000668.2:g.24145584G>A GRCh38
NC_000006.11:g.24145812G>A , CM000668.1:g.24145812G>A GRCh37
NC_000006.10:g.24253791G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.226G>A MANE Select ENSP00000367752.4:p.Gly76Arg
ENST00000378477.2:c.226G>A ENSP00000367738.2:p.Gly76Arg
ENST00000378478.5:c.226G>A ENSP00000367739.2:p.Gly76Arg
ENST00000378491.8:c.226G>A ENSP00000367752.4:p.Gly76Arg
ENST00000468195.2:n.257-9187G>A
NM_080723.4:c.226G>A NP_542454.3:p.Gly76Arg
NM_080723.5:c.226G>A MANE Select NP_542454.3:p.Gly76Arg