Canonical Allele Identifier: CA566217972
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1451335984
gnomAD v2: 6-24146268-G-C
gnomAD v3: 6-24146040-G-C
gnomAD v4: 6-24146040-G-C
MyVariant Identifiers: chr6:g.24146268G>C (hg19) chr6:g.24146040G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24146040G>C , CM000668.2:g.24146040G>C GRCh38
NC_000006.11:g.24146268G>C , CM000668.1:g.24146268G>C GRCh37
NC_000006.10:g.24254247G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*94G>C MANE Select ENSP00000367752.4:n.*94G>C
ENST00000378478.5:c.*94G>C ENSP00000367739.2:n.*94G>C
ENST00000378491.8:c.*94G>C ENSP00000367752.4:n.*94G>C
ENST00000468195.2:n.257-8731G>C
NM_080723.4:c.*94G>C NP_542454.3:n.*94G>C
NM_080723.5:c.*94G>C MANE Select NP_542454.3:n.*94G>C
Search 100 bp 5'
Search 100 bp 3'