Canonical Allele Identifier: CA363277344
Gene: NRSN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145930C>A , CM000668.2:g.24145930C>A GRCh38
NC_000006.11:g.24146158C>A , CM000668.1:g.24146158C>A GRCh37
NC_000006.10:g.24254137C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.572C>A MANE Select ENSP00000367752.4:p.Pro191His
ENST00000378478.5:c.572C>A ENSP00000367739.2:p.Pro191His
ENST00000378491.8:c.572C>A ENSP00000367752.4:p.Pro191His
ENST00000468195.2:n.257-8841C>A
NM_080723.4:c.572C>A NP_542454.3:p.Pro191His
NM_080723.5:c.572C>A MANE Select NP_542454.3:p.Pro191His