Canonical Allele Identifier: CA343643403
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182585984T>C , CM000663.2:g.182585984T>C GRCh38
NC_000001.10:g.182555119T>C , CM000663.1:g.182555119T>C GRCh37
NC_000001.9:g.180821742T>C NCBI36
NG_009024.2:g.5990A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367559.7:c.823A>G MANE Select ENSP00000356530.3:p.Thr275Ala
ENST00000539397.1:c.823A>G ENSP00000440844.1:p.Thr275Ala
NM_021133.3:c.823A>G NP_066956.1:p.Thr275Ala
XM_005245411.2:c.823A>G XP_005245468.1:p.Thr275Ala
XR_001737359.1:n.1106A>G
XR_001737360.1:n.1106A>G
NM_021133.4:c.823A>G MANE Select NP_066956.1:p.Thr275Ala