Canonical Allele Identifier: CA363276608
Gene: NRSN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145588T>A , CM000668.2:g.24145588T>A GRCh38
NC_000006.11:g.24145816T>A , CM000668.1:g.24145816T>A GRCh37
NC_000006.10:g.24253795T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.230T>A MANE Select ENSP00000367752.4:p.Leu77Ter
ENST00000378477.2:c.230T>A ENSP00000367738.2:p.Leu77Ter
ENST00000378478.5:c.230T>A ENSP00000367739.2:p.Leu77Ter
ENST00000378491.8:c.230T>A ENSP00000367752.4:p.Leu77Ter
ENST00000468195.2:n.257-9183T>A
NM_080723.4:c.230T>A NP_542454.3:p.Leu77Ter
NM_080723.5:c.230T>A MANE Select NP_542454.3:p.Leu77Ter