Canonical Allele Identifier: CA2677512572
Gene: NRSN1 HGNC NCBI

Linked Data

gnomAD v4: 6-24146046-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24146046G>T , CM000668.2:g.24146046G>T GRCh38
NC_000006.11:g.24146274G>T , CM000668.1:g.24146274G>T GRCh37
NC_000006.10:g.24254253G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*100G>T MANE Select ENSP00000367752.4:n.*100G>T
ENST00000378478.5:c.*100G>T ENSP00000367739.2:n.*100G>T
ENST00000378491.8:c.*100G>T ENSP00000367752.4:n.*100G>T
ENST00000468195.2:n.257-8725G>T
NM_080723.4:c.*100G>T NP_542454.3:n.*100G>T
NM_080723.5:c.*100G>T MANE Select NP_542454.3:n.*100G>T