Canonical Allele Identifier: CA2770320914
Gene: NRSN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145958C>T , CM000668.2:g.24145958C>T GRCh38
NC_000006.11:g.24146186C>T , CM000668.1:g.24146186C>T GRCh37
NC_000006.10:g.24254165C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*12C>T MANE Select ENSP00000367752.4:n.*12C>T
ENST00000378478.5:c.*12C>T ENSP00000367739.2:n.*12C>T
ENST00000378491.8:c.*12C>T ENSP00000367752.4:n.*12C>T
ENST00000468195.2:n.257-8813C>T
NM_080723.4:c.*12C>T NP_542454.3:n.*12C>T
NM_080723.5:c.*12C>T MANE Select NP_542454.3:n.*12C>T
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