Canonical Allele Identifier: CA136618328

Gene: NRSN1

Linked Data

• dbSNP Id: rs551547139
• gnomAD v2: 6-24146196-T-C
• gnomAD v3: 6-24145968-T-C
• gnomAD v4: 6-24145968-T-C
• MyVariant Identifiers: chr6:g.24146196T>C (hg19) ; chr6:g.24145968T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24145968T>C , CM000668.2:g.24145968T>C	GRCh38
NC_000006.11:g.24146196T>C , CM000668.1:g.24146196T>C	GRCh37
NC_000006.10:g.24254175T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.*22T>C MANE Select	ENSP00000367752.4:n.*22T>C
ENST00000378478.5:c.*22T>C	ENSP00000367739.2:n.*22T>C
ENST00000378491.8:c.*22T>C	ENSP00000367752.4:n.*22T>C
ENST00000468195.2:n.257-8803T>C
NM_080723.4:c.*22T>C	NP_542454.3:n.*22T>C
NM_080723.5:c.*22T>C MANE Select	NP_542454.3:n.*22T>C