Canonical Allele Identifier: CA3654333

Gene: NRSN1

Linked Data

• dbSNP Id: rs752548718
• ExAC: 6:24145756 C / T
• gnomAD v2: 6-24145756-C-T
• gnomAD v4: 6-24145528-C-T
• MyVariant Identifiers: chr6:g.24145756C>T (hg19) ; chr6:g.24145528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24145528C>T , CM000668.2:g.24145528C>T	GRCh38
NC_000006.11:g.24145756C>T , CM000668.1:g.24145756C>T	GRCh37
NC_000006.10:g.24253735C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.190-20C>T MANE Select	ENSP00000367752.4:n.190-20C>T
ENST00000378477.2:c.190-20C>T	ENSP00000367738.2:n.190-20C>T
ENST00000378478.5:c.190-20C>T	ENSP00000367739.2:n.190-20C>T
ENST00000378491.8:c.190-20C>T	ENSP00000367752.4:n.190-20C>T
ENST00000468195.2:n.257-9243C>T
NM_080723.4:c.190-20C>T	NP_542454.3:n.190-20C>T
NM_080723.5:c.190-20C>T MANE Select	NP_542454.3:n.190-20C>T