Canonical Allele Identifier: CA343644644
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs374109517
gnomAD v2: 1-182555419-C-T
gnomAD v4: 1-182586284-C-T
COSMIC: COSM2097088
MyVariant Identifiers: chr1:g.182555419C>T (hg19) chr1:g.182586284C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586284C>T , CM000663.2:g.182586284C>T GRCh38
NC_000001.10:g.182555419C>T , CM000663.1:g.182555419C>T GRCh37
NC_000001.9:g.180822042C>T NCBI36
NG_009024.2:g.5690G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.523G>A MANE Select ENSP00000356530.3:p.Ala175Thr
ENST00000539397.1:c.523G>A ENSP00000440844.1:p.Ala175Thr
NM_021133.3:c.523G>A NP_066956.1:p.Ala175Thr
XM_005245411.2:c.523G>A XP_005245468.1:p.Ala175Thr
XR_001737359.1:n.806G>A
XR_001737360.1:n.806G>A
NM_021133.4:c.523G>A MANE Select NP_066956.1:p.Ala175Thr
Search 100 bp 5'
Search 100 bp 3'