Canonical Allele Identifier: CA2677512560
Gene: NRSN1 HGNC NCBI

Linked Data

gnomAD v4: 6-24146034-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24146034T>C , CM000668.2:g.24146034T>C GRCh38
NC_000006.11:g.24146262T>C , CM000668.1:g.24146262T>C GRCh37
NC_000006.10:g.24254241T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*88T>C MANE Select ENSP00000367752.4:n.*88T>C
ENST00000378478.5:c.*88T>C ENSP00000367739.2:n.*88T>C
ENST00000378491.8:c.*88T>C ENSP00000367752.4:n.*88T>C
ENST00000468195.2:n.257-8737T>C
NM_080723.4:c.*88T>C NP_542454.3:n.*88T>C
NM_080723.5:c.*88T>C MANE Select NP_542454.3:n.*88T>C
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