Canonical Allele Identifier: CA363277300
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1274678295
gnomAD v2: 6-24146139-A-G
gnomAD v3: 6-24145911-A-G
gnomAD v4: 6-24145911-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145911A>G , CM000668.2:g.24145911A>G GRCh38
NC_000006.11:g.24146139A>G , CM000668.1:g.24146139A>G GRCh37
NC_000006.10:g.24254118A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.553A>G MANE Select ENSP00000367752.4:p.Arg185Gly
ENST00000378478.5:c.553A>G ENSP00000367739.2:p.Arg185Gly
ENST00000378491.8:c.553A>G ENSP00000367752.4:p.Arg185Gly
ENST00000468195.2:n.257-8860A>G
NM_080723.4:c.553A>G NP_542454.3:p.Arg185Gly
NM_080723.5:c.553A>G MANE Select NP_542454.3:p.Arg185Gly