Canonical Allele Identifier: CA2876248
Gene: SOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 708784
ClinVar RCV Id: RCV000880100 RCV003930497
dbSNP Id: rs17879876
ExAC: 4:24801414 G / A
gnomAD v2: 4-24801414-G-A
gnomAD v3: 4-24799792-G-A
gnomAD v4: 4-24799792-G-A
MyVariant Identifiers: chr4:g.24801414G>A (hg19) chr4:g.24799792G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799792G>A , CM000666.2:g.24799792G>A GRCh38
NC_000004.11:g.24801414G>A , CM000666.1:g.24801414G>A GRCh37
NC_000004.10:g.24410512G>A NCBI36
NG_012213.1:g.9330G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.271G>A MANE Select ENSP00000371554.3:p.Ala91Thr
ENST00000382120.3:c.271G>A ENSP00000371554.3:p.Ala91Thr
NM_003102.2:c.271G>A NP_003093.2:p.Ala91Thr
XR_427488.1:n.461G>A
NM_003102.3:c.271G>A NP_003093.2:p.Ala91Thr
NM_003102.4:c.271G>A MANE Select NP_003093.2:p.Ala91Thr
Search 100 bp 5'
Search 100 bp 3'