Canonical Allele Identifier: CA566217981
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1226299564
gnomAD v2: 6-24146374-G-A
gnomAD v3: 6-24146146-G-A
gnomAD v4: 6-24146146-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24146146G>A , CM000668.2:g.24146146G>A GRCh38
NC_000006.11:g.24146374G>A , CM000668.1:g.24146374G>A GRCh37
NC_000006.10:g.24254353G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*200G>A MANE Select ENSP00000367752.4:n.*200G>A
ENST00000378478.5:c.*200G>A ENSP00000367739.2:n.*200G>A
ENST00000378491.8:c.*200G>A ENSP00000367752.4:n.*200G>A
ENST00000468195.2:n.257-8625G>A
NM_080723.4:c.*200G>A NP_542454.3:n.*200G>A
NM_080723.5:c.*200G>A MANE Select NP_542454.3:n.*200G>A