Canonical Allele Identifier: CA343644775
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586305C>T , CM000663.2:g.182586305C>T GRCh38
NC_000001.10:g.182555440C>T , CM000663.1:g.182555440C>T GRCh37
NC_000001.9:g.180822063C>T NCBI36
NG_009024.2:g.5669G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.502G>A MANE Select ENSP00000356530.3:p.Gly168Arg
ENST00000539397.1:c.502G>A ENSP00000440844.1:p.Gly168Arg
NM_021133.3:c.502G>A NP_066956.1:p.Gly168Arg
XM_005245411.2:c.502G>A XP_005245468.1:p.Gly168Arg
XR_001737359.1:n.785G>A
XR_001737360.1:n.785G>A
NM_021133.4:c.502G>A MANE Select NP_066956.1:p.Gly168Arg