Canonical Allele Identifier: CA356640483
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800182-C-A
MyVariant Identifiers: chr4:g.24801804C>A (hg19) chr4:g.24800182C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800182C>A , CM000666.2:g.24800182C>A GRCh38
NC_000004.11:g.24801804C>A , CM000666.1:g.24801804C>A GRCh37
NC_000004.10:g.24410902C>A NCBI36
NG_012213.1:g.9720C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.661C>A MANE Select ENSP00000371554.3:p.Gln221Lys
ENST00000382120.3:c.661C>A ENSP00000371554.3:p.Gln221Lys
NM_003102.2:c.661C>A NP_003093.2:p.Gln221Lys
XR_427488.1:n.851C>A
NM_003102.3:c.661C>A NP_003093.2:p.Gln221Lys
NM_003102.4:c.661C>A MANE Select NP_003093.2:p.Gln221Lys
Search 100 bp 5'
Search 100 bp 3'