Canonical Allele Identifier: CA343644874

Gene: RNASEL

Linked Data

• dbSNP Id: rs1252677870
• gnomAD v2: 1-182555467-C-T
• gnomAD v4: 1-182586332-C-T
• MyVariant Identifiers: chr1:g.182555467C>T (hg19) ; chr1:g.182555467_182555471delinsTCTTT (hg19) ; chr1:g.182586332C>T (hg38) ; chr1:g.182586332_182586336delinsTCTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.182586332C>T , CM000663.2:g.182586332C>T	GRCh38
NC_000001.10:g.182555467C>T , CM000663.1:g.182555467C>T	GRCh37
NC_000001.9:g.180822090C>T	NCBI36
NG_009024.2:g.5642G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367559.7:c.475G>A MANE Select	ENSP00000356530.3:p.Glu159Lys
ENST00000539397.1:c.475G>A	ENSP00000440844.1:p.Glu159Lys
NM_021133.3:c.475G>A	NP_066956.1:p.Glu159Lys
XM_005245411.2:c.475G>A	XP_005245468.1:p.Glu159Lys
XR_001737359.1:n.758G>A
XR_001737360.1:n.758G>A
NM_021133.4:c.475G>A MANE Select	NP_066956.1:p.Glu159Lys