Canonical Allele Identifier: CA343644757
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586301G>A , CM000663.2:g.182586301G>A GRCh38
NC_000001.10:g.182555436G>A , CM000663.1:g.182555436G>A GRCh37
NC_000001.9:g.180822059G>A NCBI36
NG_009024.2:g.5673C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.506C>T MANE Select ENSP00000356530.3:p.Ala169Val
ENST00000539397.1:c.506C>T ENSP00000440844.1:p.Ala169Val
NM_021133.3:c.506C>T NP_066956.1:p.Ala169Val
XM_005245411.2:c.506C>T XP_005245468.1:p.Ala169Val
XR_001737359.1:n.789C>T
XR_001737360.1:n.789C>T
NM_021133.4:c.506C>T MANE Select NP_066956.1:p.Ala169Val