Canonical Allele Identifier: CA3654361
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs145576324
gnomAD v2: 6-24145939-C-G
gnomAD v3: 6-24145711-C-G
gnomAD v4: 6-24145711-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145711C>G , CM000668.2:g.24145711C>G GRCh38
NC_000006.11:g.24145939C>G , CM000668.1:g.24145939C>G GRCh37
NC_000006.10:g.24253918C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.353C>G MANE Select ENSP00000367752.4:p.Ala118Gly
ENST00000378477.2:c.353C>G ENSP00000367738.2:p.Ala118Gly
ENST00000378478.5:c.353C>G ENSP00000367739.2:p.Ala118Gly
ENST00000378491.8:c.353C>G ENSP00000367752.4:p.Ala118Gly
ENST00000468195.2:n.257-9060C>G
NM_080723.4:c.353C>G NP_542454.3:p.Ala118Gly
NM_080723.5:c.353C>G MANE Select NP_542454.3:p.Ala118Gly