Canonical Allele Identifier: CA356638872

Gene: SOD3

Linked Data

• MyVariant Identifiers: chr4:g.24801387G>C (hg19) ; chr4:g.24799765G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24799765G>C , CM000666.2:g.24799765G>C	GRCh38
NC_000004.11:g.24801387G>C , CM000666.1:g.24801387G>C	GRCh37
NC_000004.10:g.24410485G>C	NCBI36
NG_012213.1:g.9303G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.244G>C MANE Select	ENSP00000371554.3:p.Val82Leu
ENST00000382120.3:c.244G>C	ENSP00000371554.3:p.Val82Leu
NM_003102.2:c.244G>C	NP_003093.2:p.Val82Leu
XR_427488.1:n.434G>C
NM_003102.3:c.244G>C	NP_003093.2:p.Val82Leu
NM_003102.4:c.244G>C MANE Select	NP_003093.2:p.Val82Leu