Canonical Allele Identifier: CA566291249

Gene: NRSN1

Linked Data

• dbSNP Id: rs1360966865
• gnomAD v2: 6-24145691-A-C
• gnomAD v3: 6-24145463-A-C
• gnomAD v4: 6-24145463-A-C
• MyVariant Identifiers: chr6:g.24145691A>C (hg19) ; chr6:g.24145463A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24145463A>C , CM000668.2:g.24145463A>C	GRCh38
NC_000006.11:g.24145691A>C , CM000668.1:g.24145691A>C	GRCh37
NC_000006.10:g.24253670A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.190-85A>C MANE Select	ENSP00000367752.4:n.190-85A>C
ENST00000378477.2:c.190-85A>C	ENSP00000367738.2:n.190-85A>C
ENST00000378478.5:c.190-85A>C	ENSP00000367739.2:n.190-85A>C
ENST00000378491.8:c.190-85A>C	ENSP00000367752.4:n.190-85A>C
ENST00000468195.2:n.257-9308A>C
NM_080723.4:c.190-85A>C	NP_542454.3:n.190-85A>C
NM_080723.5:c.190-85A>C MANE Select	NP_542454.3:n.190-85A>C