Canonical Allele Identifier: CA343643675
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586060C>G , CM000663.2:g.182586060C>G GRCh38
NC_000001.10:g.182555195C>G , CM000663.1:g.182555195C>G GRCh37
NC_000001.9:g.180821818C>G NCBI36
NG_009024.2:g.5914G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.747G>C MANE Select ENSP00000356530.3:p.Lys249Asn
ENST00000539397.1:c.747G>C ENSP00000440844.1:p.Lys249Asn
NM_021133.3:c.747G>C NP_066956.1:p.Lys249Asn
XM_005245411.2:c.747G>C XP_005245468.1:p.Lys249Asn
XR_001737359.1:n.1030G>C
XR_001737360.1:n.1030G>C
NM_021133.4:c.747G>C MANE Select NP_066956.1:p.Lys249Asn