Canonical Allele Identifier: CA136618342

Gene: NRSN1

Linked Data

• dbSNP Id: rs980804711
• gnomAD v2: 6-24146301-A-G
• gnomAD v3: 6-24146073-A-G
• gnomAD v4: 6-24146073-A-G
• MyVariant Identifiers: chr6:g.24146301A>G (hg19) ; chr6:g.24146073A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24146073A>G , CM000668.2:g.24146073A>G	GRCh38
NC_000006.11:g.24146301A>G , CM000668.1:g.24146301A>G	GRCh37
NC_000006.10:g.24254280A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.*127A>G MANE Select	ENSP00000367752.4:n.*127A>G
ENST00000378478.5:c.*127A>G	ENSP00000367739.2:n.*127A>G
ENST00000378491.8:c.*127A>G	ENSP00000367752.4:n.*127A>G
ENST00000468195.2:n.257-8698A>G
NM_080723.4:c.*127A>G	NP_542454.3:n.*127A>G
NM_080723.5:c.*127A>G MANE Select	NP_542454.3:n.*127A>G