Canonical Allele Identifier: CA422275796
Gene: RNASEL HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.182555252A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586117A>G , CM000663.2:g.182586117A>G GRCh38
NC_000001.10:g.182555252A>G , CM000663.1:g.182555252A>G GRCh37
NC_000001.9:g.180821875A>G NCBI36
NG_009024.2:g.5857T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.690T>C MANE Select ENSP00000356530.3:p.Ala230=
ENST00000539397.1:c.690T>C ENSP00000440844.1:p.Ala230=
NM_021133.3:c.690T>C NP_066956.1:p.Ala230=
XM_005245411.2:c.690T>C XP_005245468.1:p.Ala230=
XR_001737359.1:n.973T>C
XR_001737360.1:n.973T>C
NM_021133.4:c.690T>C MANE Select NP_066956.1:p.Ala230=