Canonical Allele Identifier: CA3654399
Gene: NRSN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2228446
ClinVar RCV Id: RCV004093459
dbSNP Id: rs753005326
ExAC: 6:24146157 C / G
gnomAD v2: 6-24146157-C-G
gnomAD v3: 6-24145929-C-G
gnomAD v4: 6-24145929-C-G
MyVariant Identifiers: chr6:g.24146157C>G (hg19) chr6:g.24145929C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145929C>G , CM000668.2:g.24145929C>G GRCh38
NC_000006.11:g.24146157C>G , CM000668.1:g.24146157C>G GRCh37
NC_000006.10:g.24254136C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.571C>G MANE Select ENSP00000367752.4:p.Pro191Ala
ENST00000378478.5:c.571C>G ENSP00000367739.2:p.Pro191Ala
ENST00000378491.8:c.571C>G ENSP00000367752.4:p.Pro191Ala
ENST00000468195.2:n.257-8842C>G
NM_080723.4:c.571C>G NP_542454.3:p.Pro191Ala
NM_080723.5:c.571C>G MANE Select NP_542454.3:p.Pro191Ala
Search 100 bp 5'
Search 100 bp 3'