Canonical Allele Identifier: CA94297238
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs568625436
gnomAD v2: 4-24801688-C-T
gnomAD v3: 4-24800066-C-T
gnomAD v4: 4-24800066-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800066C>T , CM000666.2:g.24800066C>T GRCh38
NC_000004.11:g.24801688C>T , CM000666.1:g.24801688C>T GRCh37
NC_000004.10:g.24410786C>T NCBI36
NG_012213.1:g.9604C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.545C>T MANE Select ENSP00000371554.3:p.Ala182Val
ENST00000382120.3:c.545C>T ENSP00000371554.3:p.Ala182Val
NM_003102.2:c.545C>T NP_003093.2:p.Ala182Val
XR_427488.1:n.735C>T
NM_003102.3:c.545C>T NP_003093.2:p.Ala182Val
NM_003102.4:c.545C>T MANE Select NP_003093.2:p.Ala182Val