Canonical Allele Identifier: CA3654400
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs758914459
ExAC: 6:24146163 C / A
gnomAD v2: 6-24146163-C-A
gnomAD v4: 6-24145935-C-A
MyVariant Identifiers: chr6:g.24146163C>A (hg19) chr6:g.24145935C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145935C>A , CM000668.2:g.24145935C>A GRCh38
NC_000006.11:g.24146163C>A , CM000668.1:g.24146163C>A GRCh37
NC_000006.10:g.24254142C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.577C>A MANE Select ENSP00000367752.4:p.Leu193Met
ENST00000378478.5:c.577C>A ENSP00000367739.2:p.Leu193Met
ENST00000378491.8:c.577C>A ENSP00000367752.4:p.Leu193Met
ENST00000468195.2:n.257-8836C>A
NM_080723.4:c.577C>A NP_542454.3:p.Leu193Met
NM_080723.5:c.577C>A MANE Select NP_542454.3:p.Leu193Met
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