Canonical Allele Identifier: CA363276888
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1760292739
gnomAD v3: 6-24145719-G-C
gnomAD v4: 6-24145719-G-C
MyVariant Identifiers: chr6:g.24145947G>C (hg19) chr6:g.24145719G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145719G>C , CM000668.2:g.24145719G>C GRCh38
NC_000006.11:g.24145947G>C , CM000668.1:g.24145947G>C GRCh37
NC_000006.10:g.24253926G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.361G>C MANE Select ENSP00000367752.4:p.Val121Leu
ENST00000378477.2:c.361G>C ENSP00000367738.2:p.Val121Leu
ENST00000378478.5:c.361G>C ENSP00000367739.2:p.Val121Leu
ENST00000378491.8:c.361G>C ENSP00000367752.4:p.Val121Leu
ENST00000468195.2:n.257-9052G>C
NM_080723.4:c.361G>C NP_542454.3:p.Val121Leu
NM_080723.5:c.361G>C MANE Select NP_542454.3:p.Val121Leu
Search 100 bp 5'
Search 100 bp 3'