Canonical Allele Identifier: CA1278259
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs182539049
ExAC: 1:182555391 A / G
gnomAD v2: 1-182555391-A-G
gnomAD v3: 1-182586256-A-G
gnomAD v4: 1-182586256-A-G
MyVariant Identifiers: chr1:g.182555391A>G (hg19) chr1:g.182586256A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586256A>G , CM000663.2:g.182586256A>G GRCh38
NC_000001.10:g.182555391A>G , CM000663.1:g.182555391A>G GRCh37
NC_000001.9:g.180822014A>G NCBI36
NG_009024.2:g.5718T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.551T>C MANE Select ENSP00000356530.3:p.Leu184Ser
ENST00000539397.1:c.551T>C ENSP00000440844.1:p.Leu184Ser
NM_021133.3:c.551T>C NP_066956.1:p.Leu184Ser
XM_005245411.2:c.551T>C XP_005245468.1:p.Leu184Ser
XR_001737359.1:n.834T>C
XR_001737360.1:n.834T>C
NM_021133.4:c.551T>C MANE Select NP_066956.1:p.Leu184Ser
Search 100 bp 5'
Search 100 bp 3'