Canonical Allele Identifier: CA3654343
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs771669040
ExAC: 6:24145830 G / A
gnomAD v2: 6-24145830-G-A
gnomAD v3: 6-24145602-G-A
gnomAD v4: 6-24145602-G-A
MyVariant Identifiers: chr6:g.24145830G>A (hg19) chr6:g.24145602G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145602G>A , CM000668.2:g.24145602G>A GRCh38
NC_000006.11:g.24145830G>A , CM000668.1:g.24145830G>A GRCh37
NC_000006.10:g.24253809G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.244G>A MANE Select ENSP00000367752.4:p.Val82Met
ENST00000378477.2:c.244G>A ENSP00000367738.2:p.Val82Met
ENST00000378478.5:c.244G>A ENSP00000367739.2:p.Val82Met
ENST00000378491.8:c.244G>A ENSP00000367752.4:p.Val82Met
ENST00000468195.2:n.257-9169G>A
NM_080723.4:c.244G>A NP_542454.3:p.Val82Met
NM_080723.5:c.244G>A MANE Select NP_542454.3:p.Val82Met
Search 100 bp 5'
Search 100 bp 3'