Canonical Allele Identifier: CA448950291
Gene: NRSN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.24146135G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145907G>A , CM000668.2:g.24145907G>A GRCh38
NC_000006.11:g.24146135G>A , CM000668.1:g.24146135G>A GRCh37
NC_000006.10:g.24254114G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.549G>A MANE Select ENSP00000367752.4:p.Leu183=
ENST00000378478.5:c.549G>A ENSP00000367739.2:p.Leu183=
ENST00000378491.8:c.549G>A ENSP00000367752.4:p.Leu183=
ENST00000468195.2:n.257-8864G>A
NM_080723.4:c.549G>A NP_542454.3:p.Leu183=
NM_080723.5:c.549G>A MANE Select NP_542454.3:p.Leu183=