Canonical Allele Identifier: CA2578057461
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800249-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800249G>T , CM000666.2:g.24800249G>T GRCh38
NC_000004.11:g.24801871G>T , CM000666.1:g.24801871G>T GRCh37
NC_000004.10:g.24410969G>T NCBI36
NG_012213.1:g.9787G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*5G>T MANE Select ENSP00000371554.3:n.*5G>T
ENST00000382120.3:c.*5G>T ENSP00000371554.3:n.*5G>T
NM_003102.2:c.*5G>T NP_003093.2:n.*5G>T
XR_427488.1:n.918G>T
NM_003102.3:c.*5G>T NP_003093.2:n.*5G>T
NM_003102.4:c.*5G>T MANE Select NP_003093.2:n.*5G>T