Canonical Allele Identifier: CA823266195
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1470264753
gnomAD v3: 6-24146150-C-T
gnomAD v4: 6-24146150-C-T
MyVariant Identifiers: chr6:g.24146378C>T (hg19) chr6:g.24146150C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24146150C>T , CM000668.2:g.24146150C>T GRCh38
NC_000006.11:g.24146378C>T , CM000668.1:g.24146378C>T GRCh37
NC_000006.10:g.24254357C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*204C>T MANE Select ENSP00000367752.4:n.*204C>T
ENST00000378478.5:c.*204C>T ENSP00000367739.2:n.*204C>T
ENST00000378491.8:c.*204C>T ENSP00000367752.4:n.*204C>T
ENST00000468195.2:n.257-8621C>T
NM_080723.4:c.*204C>T NP_542454.3:n.*204C>T
NM_080723.5:c.*204C>T MANE Select NP_542454.3:n.*204C>T
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