Canonical Allele Identifier: CA566291250
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1466556445
gnomAD v2: 6-24145704-C-T
gnomAD v3: 6-24145476-C-T
gnomAD v4: 6-24145476-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145476C>T , CM000668.2:g.24145476C>T GRCh38
NC_000006.11:g.24145704C>T , CM000668.1:g.24145704C>T GRCh37
NC_000006.10:g.24253683C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.190-72C>T MANE Select ENSP00000367752.4:n.190-72C>T
ENST00000378477.2:c.190-72C>T ENSP00000367738.2:n.190-72C>T
ENST00000378478.5:c.190-72C>T ENSP00000367739.2:n.190-72C>T
ENST00000378491.8:c.190-72C>T ENSP00000367752.4:n.190-72C>T
ENST00000468195.2:n.257-9295C>T
NM_080723.4:c.190-72C>T NP_542454.3:n.190-72C>T
NM_080723.5:c.190-72C>T MANE Select NP_542454.3:n.190-72C>T