Canonical Allele Identifier: CA2677512547
Gene: NRSN1 HGNC NCBI

Linked Data

gnomAD v4: 6-24146014-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24146014G>T , CM000668.2:g.24146014G>T GRCh38
NC_000006.11:g.24146242G>T , CM000668.1:g.24146242G>T GRCh37
NC_000006.10:g.24254221G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*68G>T MANE Select ENSP00000367752.4:n.*68G>T
ENST00000378478.5:c.*68G>T ENSP00000367739.2:n.*68G>T
ENST00000378491.8:c.*68G>T ENSP00000367752.4:n.*68G>T
ENST00000468195.2:n.257-8757G>T
NM_080723.4:c.*68G>T NP_542454.3:n.*68G>T
NM_080723.5:c.*68G>T MANE Select NP_542454.3:n.*68G>T
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