Canonical Allele Identifier: CA1278277
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs766020877
ExAC: 1:182555479 G / A
gnomAD v2: 1-182555479-G-A
gnomAD v3: 1-182586344-G-A
gnomAD v4: 1-182586344-G-A
COSMIC: COSM1689383
MyVariant Identifiers: chr1:g.182555479G>A (hg19) chr1:g.182586344G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586344G>A , CM000663.2:g.182586344G>A GRCh38
NC_000001.10:g.182555479G>A , CM000663.1:g.182555479G>A GRCh37
NC_000001.9:g.180822102G>A NCBI36
NG_009024.2:g.5630C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.463C>T MANE Select ENSP00000356530.3:p.Arg155Ter
ENST00000539397.1:c.463C>T ENSP00000440844.1:p.Arg155Ter
NM_021133.3:c.463C>T NP_066956.1:p.Arg155Ter
XM_005245411.2:c.463C>T XP_005245468.1:p.Arg155Ter
XR_001737359.1:n.746C>T
XR_001737360.1:n.746C>T
NM_021133.4:c.463C>T MANE Select NP_066956.1:p.Arg155Ter
Search 100 bp 5'
Search 100 bp 3'