Canonical Allele Identifier: CA136618344

Gene: NRSN1

Linked Data

• dbSNP Id: rs961688373
• gnomAD v2: 6-24146314-C-T
• gnomAD v3: 6-24146086-C-T
• gnomAD v4: 6-24146086-C-T
• MyVariant Identifiers: chr6:g.24146314C>T (hg19) ; chr6:g.24146086C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24146086C>T , CM000668.2:g.24146086C>T	GRCh38
NC_000006.11:g.24146314C>T , CM000668.1:g.24146314C>T	GRCh37
NC_000006.10:g.24254293C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.*140C>T MANE Select	ENSP00000367752.4:n.*140C>T
ENST00000378478.5:c.*140C>T	ENSP00000367739.2:n.*140C>T
ENST00000378491.8:c.*140C>T	ENSP00000367752.4:n.*140C>T
ENST00000468195.2:n.257-8685C>T
NM_080723.4:c.*140C>T	NP_542454.3:n.*140C>T
NM_080723.5:c.*140C>T MANE Select	NP_542454.3:n.*140C>T