Canonical Allele Identifier: CA1277988
Gene: RNASEL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.182581355C>T
GRCh37 chr1:g.182550490C>T
Revel Score:
ENST00000367559 (MANE Select) 0.262
ENST00000444138 0.262
ENST00000539397 0.262
gnomAD v2:
1:182550490 C / T
gnomAD v3:
1:182581355 C / T
gnomAD v4:
chr1-182581355-C-T
Joint Max Group AF 0.00024074 (EAS)
Genomes Max Group AF 0.00038007 (EAS)
Exomes Max Group AF 0.00017343 (EAS)
dbSNP:
35896902
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182581355C>T , CM000663.2:g.182581355C>T GRCh38
NC_000001.10:g.182550490C>T , CM000663.1:g.182550490C>T GRCh37
NC_000001.9:g.180817113C>T NCBI36
NG_009024.2:g.10619G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.1775G>A MANE Select ENSP00000356530.3:p.Arg592His
ENST00000539397.1:c.1775G>A ENSP00000440844.1:p.Arg592His
NM_021133.3:c.1775G>A NP_066956.1:p.Arg592His
XM_005245411.2:c.1775G>A XP_005245468.1:p.Arg592His
XR_001737359.1:n.2058G>A
XR_001737360.1:n.2058G>A
NM_021133.4:c.1775G>A MANE Select NP_066956.1:p.Arg592His
Search 100 bp 5'
Search 100 bp 3'