Canonical Allele Identifier: CA1278246
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs772587819
ExAC: 1:182555321 G / A
gnomAD v2: 1-182555321-G-A
gnomAD v4: 1-182586186-G-A
MyVariant Identifiers: chr1:g.182555321G>A (hg19) chr1:g.182586186G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586186G>A , CM000663.2:g.182586186G>A GRCh38
NC_000001.10:g.182555321G>A , CM000663.1:g.182555321G>A GRCh37
NC_000001.9:g.180821944G>A NCBI36
NG_009024.2:g.5788C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.621C>T MANE Select ENSP00000356530.3:p.Ile207=
ENST00000539397.1:c.621C>T ENSP00000440844.1:p.Ile207=
NM_021133.3:c.621C>T NP_066956.1:p.Ile207=
XM_005245411.2:c.621C>T XP_005245468.1:p.Ile207=
XR_001737359.1:n.904C>T
XR_001737360.1:n.904C>T
NM_021133.4:c.621C>T MANE Select NP_066956.1:p.Ile207=
Search 100 bp 5'
Search 100 bp 3'