Canonical Allele Identifier: CA343643418
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182585989C>A , CM000663.2:g.182585989C>A GRCh38
NC_000001.10:g.182555124C>A , CM000663.1:g.182555124C>A GRCh37
NC_000001.9:g.180821747C>A NCBI36
NG_009024.2:g.5985G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367559.7:c.818G>T MANE Select ENSP00000356530.3:p.Gly273Val
ENST00000539397.1:c.818G>T ENSP00000440844.1:p.Gly273Val
NM_021133.3:c.818G>T NP_066956.1:p.Gly273Val
XM_005245411.2:c.818G>T XP_005245468.1:p.Gly273Val
XR_001737359.1:n.1101G>T
XR_001737360.1:n.1101G>T
NM_021133.4:c.818G>T MANE Select NP_066956.1:p.Gly273Val