Canonical Allele Identifier: CA356640155

Gene: SOD3

Linked Data

• MyVariant Identifiers: chr4:g.24801721A>T (hg19) ; chr4:g.24800099A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24800099A>T , CM000666.2:g.24800099A>T	GRCh38
NC_000004.11:g.24801721A>T , CM000666.1:g.24801721A>T	GRCh37
NC_000004.10:g.24410819A>T	NCBI36
NG_012213.1:g.9637A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.578A>T MANE Select	ENSP00000371554.3:p.Gln193Leu
ENST00000382120.3:c.578A>T	ENSP00000371554.3:p.Gln193Leu
NM_003102.2:c.578A>T	NP_003093.2:p.Gln193Leu
XR_427488.1:n.768A>T
NM_003102.3:c.578A>T	NP_003093.2:p.Gln193Leu
NM_003102.4:c.578A>T MANE Select	NP_003093.2:p.Gln193Leu