Canonical Allele Identifier: CA363276626
Gene: NRSN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145596C>G , CM000668.2:g.24145596C>G GRCh38
NC_000006.11:g.24145824C>G , CM000668.1:g.24145824C>G GRCh37
NC_000006.10:g.24253803C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.238C>G MANE Select ENSP00000367752.4:p.Leu80Val
ENST00000378477.2:c.238C>G ENSP00000367738.2:p.Leu80Val
ENST00000378478.5:c.238C>G ENSP00000367739.2:p.Leu80Val
ENST00000378491.8:c.238C>G ENSP00000367752.4:p.Leu80Val
ENST00000468195.2:n.257-9175C>G
NM_080723.4:c.238C>G NP_542454.3:p.Leu80Val
NM_080723.5:c.238C>G MANE Select NP_542454.3:p.Leu80Val