Canonical Allele Identifier: CA343644886
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586337G>C , CM000663.2:g.182586337G>C GRCh38
NC_000001.10:g.182555472G>C , CM000663.1:g.182555472G>C GRCh37
NC_000001.9:g.180822095G>C NCBI36
NG_009024.2:g.5637C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.470C>G MANE Select ENSP00000356530.3:p.Thr157Arg
ENST00000539397.1:c.470C>G ENSP00000440844.1:p.Thr157Arg
NM_021133.3:c.470C>G NP_066956.1:p.Thr157Arg
XM_005245411.2:c.470C>G XP_005245468.1:p.Thr157Arg
XR_001737359.1:n.753C>G
XR_001737360.1:n.753C>G
NM_021133.4:c.470C>G MANE Select NP_066956.1:p.Thr157Arg