Canonical Allele Identifier: CA136618341

Gene: NRSN1

Linked Data

• dbSNP Id: rs777036145
• gnomAD v2: 6-24146294-C-T
• gnomAD v3: 6-24146066-C-T
• gnomAD v4: 6-24146066-C-T
• MyVariant Identifiers: chr6:g.24146294C>T (hg19) ; chr6:g.24146066C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24146066C>T , CM000668.2:g.24146066C>T	GRCh38
NC_000006.11:g.24146294C>T , CM000668.1:g.24146294C>T	GRCh37
NC_000006.10:g.24254273C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.*120C>T MANE Select	ENSP00000367752.4:n.*120C>T
ENST00000378478.5:c.*120C>T	ENSP00000367739.2:n.*120C>T
ENST00000378491.8:c.*120C>T	ENSP00000367752.4:n.*120C>T
ENST00000468195.2:n.257-8705C>T
NM_080723.4:c.*120C>T	NP_542454.3:n.*120C>T
NM_080723.5:c.*120C>T MANE Select	NP_542454.3:n.*120C>T