Canonical Allele Identifier: CA343644046
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586157T>A , CM000663.2:g.182586157T>A GRCh38
NC_000001.10:g.182555292T>A , CM000663.1:g.182555292T>A GRCh37
NC_000001.9:g.180821915T>A NCBI36
NG_009024.2:g.5817A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.650A>T MANE Select ENSP00000356530.3:p.Asp217Val
ENST00000539397.1:c.650A>T ENSP00000440844.1:p.Asp217Val
NM_021133.3:c.650A>T NP_066956.1:p.Asp217Val
XM_005245411.2:c.650A>T XP_005245468.1:p.Asp217Val
XR_001737359.1:n.933A>T
XR_001737360.1:n.933A>T
NM_021133.4:c.650A>T MANE Select NP_066956.1:p.Asp217Val