Canonical Allele Identifier: CA363277328
Gene: NRSN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145923G>T , CM000668.2:g.24145923G>T GRCh38
NC_000006.11:g.24146151G>T , CM000668.1:g.24146151G>T GRCh37
NC_000006.10:g.24254130G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.565G>T MANE Select ENSP00000367752.4:p.Val189Phe
ENST00000378478.5:c.565G>T ENSP00000367739.2:p.Val189Phe
ENST00000378491.8:c.565G>T ENSP00000367752.4:p.Val189Phe
ENST00000468195.2:n.257-8848G>T
NM_080723.4:c.565G>T NP_542454.3:p.Val189Phe
NM_080723.5:c.565G>T MANE Select NP_542454.3:p.Val189Phe