Canonical Allele Identifier: CA136618331
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1006634634
gnomAD v3: 6-24145986-C-T
gnomAD v4: 6-24145986-C-T
MyVariant Identifiers: chr6:g.24146214C>T (hg19) chr6:g.24145986C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145986C>T , CM000668.2:g.24145986C>T GRCh38
NC_000006.11:g.24146214C>T , CM000668.1:g.24146214C>T GRCh37
NC_000006.10:g.24254193C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*40C>T MANE Select ENSP00000367752.4:n.*40C>T
ENST00000378478.5:c.*40C>T ENSP00000367739.2:n.*40C>T
ENST00000378491.8:c.*40C>T ENSP00000367752.4:n.*40C>T
ENST00000468195.2:n.257-8785C>T
NM_080723.4:c.*40C>T NP_542454.3:n.*40C>T
NM_080723.5:c.*40C>T MANE Select NP_542454.3:n.*40C>T
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