Canonical Allele Identifier: CA363276938
Gene: NRSN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145744C>A , CM000668.2:g.24145744C>A GRCh38
NC_000006.11:g.24145972C>A , CM000668.1:g.24145972C>A GRCh37
NC_000006.10:g.24253951C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.386C>A MANE Select ENSP00000367752.4:p.Ser129Tyr
ENST00000378477.2:c.386C>A ENSP00000367738.2:p.Ser129Tyr
ENST00000378478.5:c.386C>A ENSP00000367739.2:p.Ser129Tyr
ENST00000378491.8:c.386C>A ENSP00000367752.4:p.Ser129Tyr
ENST00000468195.2:n.257-9027C>A
NM_080723.4:c.386C>A NP_542454.3:p.Ser129Tyr
NM_080723.5:c.386C>A MANE Select NP_542454.3:p.Ser129Tyr