Canonical Allele Identifier: CA422275872
Gene: RNASEL HGNC NCBI

Linked Data

gnomAD v4: 1-182586153-C-A
MyVariant Identifiers: chr1:g.182555288C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586153C>A , CM000663.2:g.182586153C>A GRCh38
NC_000001.10:g.182555288C>A , CM000663.1:g.182555288C>A GRCh37
NC_000001.9:g.180821911C>A NCBI36
NG_009024.2:g.5821G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.654G>T MANE Select ENSP00000356530.3:p.Val218=
ENST00000539397.1:c.654G>T ENSP00000440844.1:p.Val218=
NM_021133.3:c.654G>T NP_066956.1:p.Val218=
XM_005245411.2:c.654G>T XP_005245468.1:p.Val218=
XR_001737359.1:n.937G>T
XR_001737360.1:n.937G>T
NM_021133.4:c.654G>T MANE Select NP_066956.1:p.Val218=
Search 100 bp 5'
Search 100 bp 3'