Canonical Allele Identifier: CA1278269
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs748885927
ExAC: 1:182555434 T / C
gnomAD v2: 1-182555434-T-C
gnomAD v3: 1-182586299-T-C
gnomAD v4: 1-182586299-T-C
MyVariant Identifiers: chr1:g.182555434T>C (hg19) chr1:g.182586299T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586299T>C , CM000663.2:g.182586299T>C GRCh38
NC_000001.10:g.182555434T>C , CM000663.1:g.182555434T>C GRCh37
NC_000001.9:g.180822057T>C NCBI36
NG_009024.2:g.5675A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.508A>G MANE Select ENSP00000356530.3:p.Thr170Ala
ENST00000539397.1:c.508A>G ENSP00000440844.1:p.Thr170Ala
NM_021133.3:c.508A>G NP_066956.1:p.Thr170Ala
XM_005245411.2:c.508A>G XP_005245468.1:p.Thr170Ala
XR_001737359.1:n.791A>G
XR_001737360.1:n.791A>G
NM_021133.4:c.508A>G MANE Select NP_066956.1:p.Thr170Ala
Search 100 bp 5'
Search 100 bp 3'