Canonical Allele Identifier: CA356640180

Gene: SOD3

Linked Data

• dbSNP Id: rs1400893707
• gnomAD v2: 4-24801727-G-C
• gnomAD v4: 4-24800105-G-C
• MyVariant Identifiers: chr4:g.24801727G>C (hg19) ; chr4:g.24800105G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24800105G>C , CM000666.2:g.24800105G>C	GRCh38
NC_000004.11:g.24801727G>C , CM000666.1:g.24801727G>C	GRCh37
NC_000004.10:g.24410825G>C	NCBI36
NG_012213.1:g.9643G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.584G>C MANE Select	ENSP00000371554.3:p.Ser195Thr
ENST00000382120.3:c.584G>C	ENSP00000371554.3:p.Ser195Thr
NM_003102.2:c.584G>C	NP_003093.2:p.Ser195Thr
XR_427488.1:n.774G>C
NM_003102.3:c.584G>C	NP_003093.2:p.Ser195Thr
NM_003102.4:c.584G>C MANE Select	NP_003093.2:p.Ser195Thr