Canonical Allele Identifier: CA136618310
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs867401260
gnomAD v2: 6-24145813-G-A
MyVariant Identifiers: chr6:g.24145813G>A (hg19) chr6:g.24145585G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145585G>A , CM000668.2:g.24145585G>A GRCh38
NC_000006.11:g.24145813G>A , CM000668.1:g.24145813G>A GRCh37
NC_000006.10:g.24253792G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.227G>A MANE Select ENSP00000367752.4:p.Gly76Glu
ENST00000378477.2:c.227G>A ENSP00000367738.2:p.Gly76Glu
ENST00000378478.5:c.227G>A ENSP00000367739.2:p.Gly76Glu
ENST00000378491.8:c.227G>A ENSP00000367752.4:p.Gly76Glu
ENST00000468195.2:n.257-9186G>A
NM_080723.4:c.227G>A NP_542454.3:p.Gly76Glu
NM_080723.5:c.227G>A MANE Select NP_542454.3:p.Gly76Glu
Search 100 bp 5'
Search 100 bp 3'