Canonical Allele Identifier: CA566217943
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1483985460
gnomAD v2: 6-24145519-T-A
gnomAD v3: 6-24145291-T-A
gnomAD v4: 6-24145291-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145291T>A , CM000668.2:g.24145291T>A GRCh38
NC_000006.11:g.24145519T>A , CM000668.1:g.24145519T>A GRCh37
NC_000006.10:g.24253498T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.190-257T>A MANE Select ENSP00000367752.4:n.190-257T>A
ENST00000378477.2:c.190-257T>A ENSP00000367738.2:n.190-257T>A
ENST00000378478.5:c.190-257T>A ENSP00000367739.2:n.190-257T>A
ENST00000378491.8:c.190-257T>A ENSP00000367752.4:n.190-257T>A
ENST00000468195.2:n.257-9480T>A
NM_080723.4:c.190-257T>A NP_542454.3:n.190-257T>A
NM_080723.5:c.190-257T>A MANE Select NP_542454.3:n.190-257T>A