Canonical Allele Identifier: CA356640162
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs2109071627
gnomAD v4: 4-24800101-G-A
MyVariant Identifiers: chr4:g.24801723G>A (hg19) chr4:g.24800101G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800101G>A , CM000666.2:g.24800101G>A GRCh38
NC_000004.11:g.24801723G>A , CM000666.1:g.24801723G>A GRCh37
NC_000004.10:g.24410821G>A NCBI36
NG_012213.1:g.9639G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.580G>A MANE Select ENSP00000371554.3:p.Ala194Thr
ENST00000382120.3:c.580G>A ENSP00000371554.3:p.Ala194Thr
NM_003102.2:c.580G>A NP_003093.2:p.Ala194Thr
XR_427488.1:n.770G>A
NM_003102.3:c.580G>A NP_003093.2:p.Ala194Thr
NM_003102.4:c.580G>A MANE Select NP_003093.2:p.Ala194Thr
Search 100 bp 5'
Search 100 bp 3'