Canonical Allele Identifier: CA438901903
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1713808632
gnomAD v4: 4-24800238-C-T
MyVariant Identifiers: chr4:g.24801860C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800238C>T , CM000666.2:g.24800238C>T GRCh38
NC_000004.11:g.24801860C>T , CM000666.1:g.24801860C>T GRCh37
NC_000004.10:g.24410958C>T NCBI36
NG_012213.1:g.9776C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.717C>T MANE Select ENSP00000371554.3:p.Ala239=
ENST00000382120.3:c.717C>T ENSP00000371554.3:p.Ala239=
NM_003102.2:c.717C>T NP_003093.2:p.Ala239=
XR_427488.1:n.907C>T
NM_003102.3:c.717C>T NP_003093.2:p.Ala239=
NM_003102.4:c.717C>T MANE Select NP_003093.2:p.Ala239=