Canonical Allele Identifier: CA343644154
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586179G>C , CM000663.2:g.182586179G>C GRCh38
NC_000001.10:g.182555314G>C , CM000663.1:g.182555314G>C GRCh37
NC_000001.9:g.180821937G>C NCBI36
NG_009024.2:g.5795C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.628C>G MANE Select ENSP00000356530.3:p.Leu210Val
ENST00000539397.1:c.628C>G ENSP00000440844.1:p.Leu210Val
NM_021133.3:c.628C>G NP_066956.1:p.Leu210Val
XM_005245411.2:c.628C>G XP_005245468.1:p.Leu210Val
XR_001737359.1:n.911C>G
XR_001737360.1:n.911C>G
NM_021133.4:c.628C>G MANE Select NP_066956.1:p.Leu210Val