Canonical Allele Identifier: CA343644717
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs1455905636
gnomAD v2: 1-182555428-G-A
gnomAD v4: 1-182586293-G-A
MyVariant Identifiers: chr1:g.182555428G>A (hg19) chr1:g.182586293G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586293G>A , CM000663.2:g.182586293G>A GRCh38
NC_000001.10:g.182555428G>A , CM000663.1:g.182555428G>A GRCh37
NC_000001.9:g.180822051G>A NCBI36
NG_009024.2:g.5681C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.514C>T MANE Select ENSP00000356530.3:p.Leu172Phe
ENST00000539397.1:c.514C>T ENSP00000440844.1:p.Leu172Phe
NM_021133.3:c.514C>T NP_066956.1:p.Leu172Phe
XM_005245411.2:c.514C>T XP_005245468.1:p.Leu172Phe
XR_001737359.1:n.797C>T
XR_001737360.1:n.797C>T
NM_021133.4:c.514C>T MANE Select NP_066956.1:p.Leu172Phe
Search 100 bp 5'
Search 100 bp 3'