Canonical Allele Identifier: CA363277230
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1187787282
gnomAD v2: 6-24146104-G-A
gnomAD v4: 6-24145876-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145876G>A , CM000668.2:g.24145876G>A GRCh38
NC_000006.11:g.24146104G>A , CM000668.1:g.24146104G>A GRCh37
NC_000006.10:g.24254083G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.518G>A MANE Select ENSP00000367752.4:p.Gly173Glu
ENST00000378477.2:c.518G>A
ENST00000378478.5:c.518G>A ENSP00000367739.2:p.Gly173Glu
ENST00000378491.8:c.518G>A ENSP00000367752.4:p.Gly173Glu
ENST00000468195.2:n.257-8895G>A
NM_080723.4:c.518G>A NP_542454.3:p.Gly173Glu
NM_080723.5:c.518G>A MANE Select NP_542454.3:p.Gly173Glu