Canonical Allele Identifier: CA136618340

Gene: NRSN1

Linked Data

• dbSNP Id: rs567553596
• gnomAD v2: 6-24146291-G-A
• gnomAD v3: 6-24146063-G-A
• gnomAD v4: 6-24146063-G-A
• MyVariant Identifiers: chr6:g.24146291G>A (hg19) ; chr6:g.24146063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24146063G>A , CM000668.2:g.24146063G>A	GRCh38
NC_000006.11:g.24146291G>A , CM000668.1:g.24146291G>A	GRCh37
NC_000006.10:g.24254270G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.*117G>A MANE Select	ENSP00000367752.4:n.*117G>A
ENST00000378478.5:c.*117G>A	ENSP00000367739.2:n.*117G>A
ENST00000378491.8:c.*117G>A	ENSP00000367752.4:n.*117G>A
ENST00000468195.2:n.257-8708G>A
NM_080723.4:c.*117G>A	NP_542454.3:n.*117G>A
NM_080723.5:c.*117G>A MANE Select	NP_542454.3:n.*117G>A