Canonical Allele Identifier: CA343643865
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586114A>C , CM000663.2:g.182586114A>C GRCh38
NC_000001.10:g.182555249A>C , CM000663.1:g.182555249A>C GRCh37
NC_000001.9:g.180821872A>C NCBI36
NG_009024.2:g.5860T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.693T>G MANE Select ENSP00000356530.3:p.Asp231Glu
ENST00000539397.1:c.693T>G ENSP00000440844.1:p.Asp231Glu
NM_021133.3:c.693T>G NP_066956.1:p.Asp231Glu
XM_005245411.2:c.693T>G XP_005245468.1:p.Asp231Glu
XR_001737359.1:n.976T>G
XR_001737360.1:n.976T>G
NM_021133.4:c.693T>G MANE Select NP_066956.1:p.Asp231Glu