Canonical Allele Identifier: CA823266059
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1216378413
gnomAD v4: 6-24145972-G-C
MyVariant Identifiers: chr6:g.24146200G>C (hg19) chr6:g.24145972G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145972G>C , CM000668.2:g.24145972G>C GRCh38
NC_000006.11:g.24146200G>C , CM000668.1:g.24146200G>C GRCh37
NC_000006.10:g.24254179G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*26G>C MANE Select ENSP00000367752.4:n.*26G>C
ENST00000378478.5:c.*26G>C ENSP00000367739.2:n.*26G>C
ENST00000378491.8:c.*26G>C ENSP00000367752.4:n.*26G>C
ENST00000468195.2:n.257-8799G>C
NM_080723.4:c.*26G>C NP_542454.3:n.*26G>C
NM_080723.5:c.*26G>C MANE Select NP_542454.3:n.*26G>C
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