Canonical Allele Identifier: CA3654355
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs11544636
gnomAD v2: 6-24145896-C-T
gnomAD v3: 6-24145668-C-T
gnomAD v4: 6-24145668-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145668C>T , CM000668.2:g.24145668C>T GRCh38
NC_000006.11:g.24145896C>T , CM000668.1:g.24145896C>T GRCh37
NC_000006.10:g.24253875C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000378491.9:c.310C>T MANE Select ENSP00000367752.4:p.His104Tyr
ENST00000378477.2:c.310C>T ENSP00000367738.2:p.His104Tyr
ENST00000378478.5:c.310C>T ENSP00000367739.2:p.His104Tyr
ENST00000378491.8:c.310C>T ENSP00000367752.4:p.His104Tyr
ENST00000468195.2:n.257-9103C>T
NM_080723.4:c.310C>T NP_542454.3:p.His104Tyr
NM_080723.5:c.310C>T MANE Select NP_542454.3:p.His104Tyr