Canonical Allele Identifier: CA343643974
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586140G>T , CM000663.2:g.182586140G>T GRCh38
NC_000001.10:g.182555275G>T , CM000663.1:g.182555275G>T GRCh37
NC_000001.9:g.180821898G>T NCBI36
NG_009024.2:g.5834C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.667C>A MANE Select ENSP00000356530.3:p.His223Asn
ENST00000539397.1:c.667C>A ENSP00000440844.1:p.His223Asn
NM_021133.3:c.667C>A NP_066956.1:p.His223Asn
XM_005245411.2:c.667C>A XP_005245468.1:p.His223Asn
XR_001737359.1:n.950C>A
XR_001737360.1:n.950C>A
NM_021133.4:c.667C>A MANE Select NP_066956.1:p.His223Asn