Canonical Allele Identifier: CA438902098
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs2109071560
MyVariant Identifiers: chr4:g.24801683C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800061C>G , CM000666.2:g.24800061C>G GRCh38
NC_000004.11:g.24801683C>G , CM000666.1:g.24801683C>G GRCh37
NC_000004.10:g.24410781C>G NCBI36
NG_012213.1:g.9599C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.540C>G MANE Select ENSP00000371554.3:p.Val180=
ENST00000382120.3:c.540C>G ENSP00000371554.3:p.Val180=
NM_003102.2:c.540C>G NP_003093.2:p.Val180=
XR_427488.1:n.730C>G
NM_003102.3:c.540C>G NP_003093.2:p.Val180=
NM_003102.4:c.540C>G MANE Select NP_003093.2:p.Val180=