Canonical Allele Identifier: CA1278038
Gene: RNASEL HGNC NCBI
COSMIC:
COSM6353856 (not active)
COSM6353857 (not active)
MyVariant.info:
GRCh38 chr1:g.182582202A>C
GRCh37 chr1:g.182551337A>C
Revel Score:
ENST00000367559 (MANE Select) 0.006
ENST00000444138 0.006
ENST00000539397 0.006
gnomAD v2:
1:182551337 A / C
gnomAD v3:
1:182582202 A / C
gnomAD v4:
chr1-182582202-A-C
Joint Max Group AF 0.70806485 (EAS)
Genomes Max Group AF 0.70547486 (EAS)
Exomes Max Group AF 0.7063271 (EAS)
dbSNP:
627928
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182582202A>C , CM000663.2:g.182582202A>C GRCh38
NC_000001.10:g.182551337A>C , CM000663.1:g.182551337A>C GRCh37
NC_000001.9:g.180817960A>C NCBI36
NG_009024.2:g.9772T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.1623T>G MANE Select ENSP00000356530.3:p.Asp541Glu
ENST00000539397.1:c.1623T>G ENSP00000440844.1:p.Asp541Glu
NM_021133.3:c.1623T>G NP_066956.1:p.Asp541Glu
XM_005245411.2:c.1623T>G XP_005245468.1:p.Asp541Glu
XR_001737359.1:n.1906T>G
XR_001737360.1:n.1906T>G
NM_021133.4:c.1623T>G MANE Select NP_066956.1:p.Asp541Glu
Search 100 bp 5'
Search 100 bp 3'