Canonical Allele Identifier: CA1278234
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs138685180
ExAC: 1:182555271 A / G
gnomAD v2: 1-182555271-A-G
gnomAD v3: 1-182586136-A-G
gnomAD v4: 1-182586136-A-G
MyVariant Identifiers: chr1:g.182555271A>G (hg19) chr1:g.182586136A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586136A>G , CM000663.2:g.182586136A>G GRCh38
NC_000001.10:g.182555271A>G , CM000663.1:g.182555271A>G GRCh37
NC_000001.9:g.180821894A>G NCBI36
NG_009024.2:g.5838T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.671T>C MANE Select ENSP00000356530.3:p.Leu224Pro
ENST00000539397.1:c.671T>C ENSP00000440844.1:p.Leu224Pro
NM_021133.3:c.671T>C NP_066956.1:p.Leu224Pro
XM_005245411.2:c.671T>C XP_005245468.1:p.Leu224Pro
XR_001737359.1:n.954T>C
XR_001737360.1:n.954T>C
NM_021133.4:c.671T>C MANE Select NP_066956.1:p.Leu224Pro
Search 100 bp 5'
Search 100 bp 3'