Canonical Allele Identifier: CA438902073
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs926616271
gnomAD v2: 4-24801653-G-T
gnomAD v4: 4-24800031-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800031G>T , CM000666.2:g.24800031G>T GRCh38
NC_000004.11:g.24801653G>T , CM000666.1:g.24801653G>T GRCh37
NC_000004.10:g.24410751G>T NCBI36
NG_012213.1:g.9569G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.510G>T MANE Select ENSP00000371554.3:p.Pro170=
ENST00000382120.3:c.510G>T ENSP00000371554.3:p.Pro170=
NM_003102.2:c.510G>T NP_003093.2:p.Pro170=
XR_427488.1:n.700G>T
NM_003102.3:c.510G>T NP_003093.2:p.Pro170=
NM_003102.4:c.510G>T MANE Select NP_003093.2:p.Pro170=