Canonical Allele Identifier: CA1278267
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs771198323
ExAC: 1:182555420 G / A
gnomAD v2: 1-182555420-G-A
gnomAD v3: 1-182586285-G-A
gnomAD v4: 1-182586285-G-A
COSMIC: COSM6200575 COSM6200576
MyVariant Identifiers: chr1:g.182555420G>A (hg19) chr1:g.182586285G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586285G>A , CM000663.2:g.182586285G>A GRCh38
NC_000001.10:g.182555420G>A , CM000663.1:g.182555420G>A GRCh37
NC_000001.9:g.180822043G>A NCBI36
NG_009024.2:g.5689C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.522C>T MANE Select ENSP00000356530.3:p.Asp174=
ENST00000539397.1:c.522C>T ENSP00000440844.1:p.Asp174=
NM_021133.3:c.522C>T NP_066956.1:p.Asp174=
XM_005245411.2:c.522C>T XP_005245468.1:p.Asp174=
XR_001737359.1:n.805C>T
XR_001737360.1:n.805C>T
NM_021133.4:c.522C>T MANE Select NP_066956.1:p.Asp174=
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