Canonical Allele Identifier: CA363277359
Gene: NRSN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145939C>T , CM000668.2:g.24145939C>T GRCh38
NC_000006.11:g.24146167C>T , CM000668.1:g.24146167C>T GRCh37
NC_000006.10:g.24254146C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.581C>T MANE Select ENSP00000367752.4:p.Ala194Val
ENST00000378478.5:c.581C>T ENSP00000367739.2:p.Ala194Val
ENST00000378491.8:c.581C>T ENSP00000367752.4:p.Ala194Val
ENST00000468195.2:n.257-8832C>T
NM_080723.4:c.581C>T NP_542454.3:p.Ala194Val
NM_080723.5:c.581C>T MANE Select NP_542454.3:p.Ala194Val