Canonical Allele Identifier: CA2677512603
Gene: NRSN1 HGNC NCBI

Linked Data

gnomAD v4: 6-24146075-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24146075G>T , CM000668.2:g.24146075G>T GRCh38
NC_000006.11:g.24146303G>T , CM000668.1:g.24146303G>T GRCh37
NC_000006.10:g.24254282G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*129G>T MANE Select ENSP00000367752.4:n.*129G>T
ENST00000378478.5:c.*129G>T ENSP00000367739.2:n.*129G>T
ENST00000378491.8:c.*129G>T ENSP00000367752.4:n.*129G>T
ENST00000468195.2:n.257-8696G>T
NM_080723.4:c.*129G>T NP_542454.3:n.*129G>T
NM_080723.5:c.*129G>T MANE Select NP_542454.3:n.*129G>T