Canonical Allele Identifier: CA2578541557
Gene: NRSN1 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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