Canonical Allele Identifier: CA363277307
Gene: NRSN1 HGNC NCBI

Linked Data

gnomAD v4: 6-24145914-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145914G>C , CM000668.2:g.24145914G>C GRCh38
NC_000006.11:g.24146142G>C , CM000668.1:g.24146142G>C GRCh37
NC_000006.10:g.24254121G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.556G>C MANE Select ENSP00000367752.4:p.Val186Leu
ENST00000378478.5:c.556G>C ENSP00000367739.2:p.Val186Leu
ENST00000378491.8:c.556G>C ENSP00000367752.4:p.Val186Leu
ENST00000468195.2:n.257-8857G>C
NM_080723.4:c.556G>C NP_542454.3:p.Val186Leu
NM_080723.5:c.556G>C MANE Select NP_542454.3:p.Val186Leu