Canonical Allele Identifier: CA2677512646
Gene: NRSN1 HGNC NCBI

Linked Data

gnomAD v4: 6-24146143-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24146143C>A , CM000668.2:g.24146143C>A GRCh38
NC_000006.11:g.24146371C>A , CM000668.1:g.24146371C>A GRCh37
NC_000006.10:g.24254350C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*197C>A MANE Select ENSP00000367752.4:n.*197C>A
ENST00000378478.5:c.*197C>A ENSP00000367739.2:n.*197C>A
ENST00000378491.8:c.*197C>A ENSP00000367752.4:n.*197C>A
ENST00000468195.2:n.257-8628C>A
NM_080723.4:c.*197C>A NP_542454.3:n.*197C>A
NM_080723.5:c.*197C>A MANE Select NP_542454.3:n.*197C>A
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