Canonical Allele Identifier: CA136618333
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs57920151
gnomAD v2: 6-24146238-T-A
gnomAD v3: 6-24146010-T-A
gnomAD v4: 6-24146010-T-A
MyVariant Identifiers: chr6:g.24146238T>A (hg19) chr6:g.24146010T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24146010T>A , CM000668.2:g.24146010T>A GRCh38
NC_000006.11:g.24146238T>A , CM000668.1:g.24146238T>A GRCh37
NC_000006.10:g.24254217T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*64T>A MANE Select ENSP00000367752.4:n.*64T>A
ENST00000378478.5:c.*64T>A ENSP00000367739.2:n.*64T>A
ENST00000378491.8:c.*64T>A ENSP00000367752.4:n.*64T>A
ENST00000468195.2:n.257-8761T>A
NM_080723.4:c.*64T>A NP_542454.3:n.*64T>A
NM_080723.5:c.*64T>A MANE Select NP_542454.3:n.*64T>A
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