Canonical Allele Identifier: CA363276673
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs1266388485
gnomAD v2: 6-24145849-C-T
gnomAD v3: 6-24145621-C-T
gnomAD v4: 6-24145621-C-T
MyVariant Identifiers: chr6:g.24145849C>T (hg19) chr6:g.24145621C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145621C>T , CM000668.2:g.24145621C>T GRCh38
NC_000006.11:g.24145849C>T , CM000668.1:g.24145849C>T GRCh37
NC_000006.10:g.24253828C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.263C>T MANE Select ENSP00000367752.4:p.Pro88Leu
ENST00000378477.2:c.263C>T ENSP00000367738.2:p.Pro88Leu
ENST00000378478.5:c.263C>T ENSP00000367739.2:p.Pro88Leu
ENST00000378491.8:c.263C>T ENSP00000367752.4:p.Pro88Leu
ENST00000468195.2:n.257-9150C>T
NM_080723.4:c.263C>T NP_542454.3:p.Pro88Leu
NM_080723.5:c.263C>T MANE Select NP_542454.3:p.Pro88Leu
Search 100 bp 5'
Search 100 bp 3'