Canonical Allele Identifier: CA3654404
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs779614775
ExAC: 6:24146191 G / T
gnomAD v2: 6-24146191-G-T
gnomAD v4: 6-24145963-G-T
MyVariant Identifiers: chr6:g.24146191G>T (hg19) chr6:g.24146191_24146194delinsTTTC (hg19) chr6:g.24145963G>T (hg38) chr6:g.24145963_24145966delinsTTTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145963G>T , CM000668.2:g.24145963G>T GRCh38
NC_000006.11:g.24146191G>T , CM000668.1:g.24146191G>T GRCh37
NC_000006.10:g.24254170G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*17G>T MANE Select ENSP00000367752.4:n.*17G>T
ENST00000378478.5:c.*17G>T ENSP00000367739.2:n.*17G>T
ENST00000378491.8:c.*17G>T ENSP00000367752.4:n.*17G>T
ENST00000468195.2:n.257-8808G>T
NM_080723.4:c.*17G>T NP_542454.3:n.*17G>T
NM_080723.5:c.*17G>T MANE Select NP_542454.3:n.*17G>T
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