Canonical Allele Identifier: CA356639869
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800030-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800030C>T , CM000666.2:g.24800030C>T GRCh38
NC_000004.11:g.24801652C>T , CM000666.1:g.24801652C>T GRCh37
NC_000004.10:g.24410750C>T NCBI36
NG_012213.1:g.9568C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.509C>T MANE Select ENSP00000371554.3:p.Pro170Leu
ENST00000382120.3:c.509C>T ENSP00000371554.3:p.Pro170Leu
NM_003102.2:c.509C>T NP_003093.2:p.Pro170Leu
XR_427488.1:n.699C>T
NM_003102.3:c.509C>T NP_003093.2:p.Pro170Leu
NM_003102.4:c.509C>T MANE Select NP_003093.2:p.Pro170Leu