Canonical Allele Identifier: CA438901815
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800208-G-A
MyVariant Identifiers: chr4:g.24801830G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800208G>A , CM000666.2:g.24800208G>A GRCh38
NC_000004.11:g.24801830G>A , CM000666.1:g.24801830G>A GRCh37
NC_000004.10:g.24410928G>A NCBI36
NG_012213.1:g.9746G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.687G>A MANE Select ENSP00000371554.3:p.Lys229=
ENST00000382120.3:c.687G>A ENSP00000371554.3:p.Lys229=
NM_003102.2:c.687G>A NP_003093.2:p.Lys229=
XR_427488.1:n.877G>A
NM_003102.3:c.687G>A NP_003093.2:p.Lys229=
NM_003102.4:c.687G>A MANE Select NP_003093.2:p.Lys229=