Canonical Allele Identifier: CA356640709

Gene: SOD3

Linked Data

• gnomAD v4: 4-24800235-G-T
• MyVariant Identifiers: chr4:g.24801857G>T (hg19) ; chr4:g.24800235G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24800235G>T , CM000666.2:g.24800235G>T	GRCh38
NC_000004.11:g.24801857G>T , CM000666.1:g.24801857G>T	GRCh37
NC_000004.10:g.24410955G>T	NCBI36
NG_012213.1:g.9773G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.714G>T MANE Select	ENSP00000371554.3:p.Lys238Asn
ENST00000382120.3:c.714G>T	ENSP00000371554.3:p.Lys238Asn
NM_003102.2:c.714G>T	NP_003093.2:p.Lys238Asn
XR_427488.1:n.904G>T
NM_003102.3:c.714G>T	NP_003093.2:p.Lys238Asn
NM_003102.4:c.714G>T MANE Select	NP_003093.2:p.Lys238Asn