Canonical Allele Identifier: CA823266103
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1449230441
gnomAD v3: 6-24146027-T-C
gnomAD v4: 6-24146027-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24146027T>C , CM000668.2:g.24146027T>C GRCh38
NC_000006.11:g.24146255T>C , CM000668.1:g.24146255T>C GRCh37
NC_000006.10:g.24254234T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*81T>C MANE Select ENSP00000367752.4:n.*81T>C
ENST00000378478.5:c.*81T>C ENSP00000367739.2:n.*81T>C
ENST00000378491.8:c.*81T>C ENSP00000367752.4:n.*81T>C
ENST00000468195.2:n.257-8744T>C
NM_080723.4:c.*81T>C NP_542454.3:n.*81T>C
NM_080723.5:c.*81T>C MANE Select NP_542454.3:n.*81T>C