Canonical Allele Identifier: CA438901669
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799680-G-T
MyVariant Identifiers: chr4:g.24801302G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799680G>T , CM000666.2:g.24799680G>T GRCh38
NC_000004.11:g.24801302G>T , CM000666.1:g.24801302G>T GRCh37
NC_000004.10:g.24410400G>T NCBI36
NG_012213.1:g.9218G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.159G>T MANE Select ENSP00000371554.3:p.Arg53=
ENST00000382120.3:c.159G>T ENSP00000371554.3:p.Arg53=
ENST00000598411.1:c.159G>T ENSP00000472134.1:p.Arg53=
NM_003102.2:c.159G>T NP_003093.2:p.Arg53=
XR_427488.1:n.349G>T
NM_003102.3:c.159G>T NP_003093.2:p.Arg53=
NM_003102.4:c.159G>T MANE Select NP_003093.2:p.Arg53=