Canonical Allele Identifier: CA343643612

Gene: RNASEL

Linked Data

• dbSNP Id: rs2102371158
• MyVariant Identifiers: chr1:g.182555167G>T (hg19) ; chr1:g.182586032G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.182586032G>T , CM000663.2:g.182586032G>T	GRCh38
NC_000001.10:g.182555167G>T , CM000663.1:g.182555167G>T	GRCh37
NC_000001.9:g.180821790G>T	NCBI36
NG_009024.2:g.5942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367559.7:c.775C>A MANE Select	ENSP00000356530.3:p.Leu259Met
ENST00000539397.1:c.775C>A	ENSP00000440844.1:p.Leu259Met
NM_021133.3:c.775C>A	NP_066956.1:p.Leu259Met
XM_005245411.2:c.775C>A	XP_005245468.1:p.Leu259Met
XR_001737359.1:n.1058C>A
XR_001737360.1:n.1058C>A
NM_021133.4:c.775C>A MANE Select	NP_066956.1:p.Leu259Met