Canonical Allele Identifier: CA3654394
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs375660008
gnomAD v2: 6-24146123-T-A
gnomAD v3: 6-24145895-T-A
gnomAD v4: 6-24145895-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145895T>A , CM000668.2:g.24145895T>A GRCh38
NC_000006.11:g.24146123T>A , CM000668.1:g.24146123T>A GRCh37
NC_000006.10:g.24254102T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.537T>A MANE Select ENSP00000367752.4:p.Ile179=
ENST00000378478.5:c.537T>A ENSP00000367739.2:p.Ile179=
ENST00000378491.8:c.537T>A ENSP00000367752.4:p.Ile179=
ENST00000468195.2:n.257-8876T>A
NM_080723.4:c.537T>A NP_542454.3:p.Ile179=
NM_080723.5:c.537T>A MANE Select NP_542454.3:p.Ile179=