Canonical Allele Identifier: CA566217959
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs374814429
gnomAD v2: 6-24146188-C-G
gnomAD v4: 6-24145960-C-G
MyVariant Identifiers: chr6:g.24146188C>G (hg19) chr6:g.24145960C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145960C>G , CM000668.2:g.24145960C>G GRCh38
NC_000006.11:g.24146188C>G , CM000668.1:g.24146188C>G GRCh37
NC_000006.10:g.24254167C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*14C>G MANE Select ENSP00000367752.4:n.*14C>G
ENST00000378478.5:c.*14C>G ENSP00000367739.2:n.*14C>G
ENST00000378491.8:c.*14C>G ENSP00000367752.4:n.*14C>G
ENST00000468195.2:n.257-8811C>G
NM_080723.4:c.*14C>G NP_542454.3:n.*14C>G
NM_080723.5:c.*14C>G MANE Select NP_542454.3:n.*14C>G
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