Canonical Allele Identifier: CA356638725
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799735-G-T
MyVariant Identifiers: chr4:g.24801357G>T (hg19) chr4:g.24799735G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799735G>T , CM000666.2:g.24799735G>T GRCh38
NC_000004.11:g.24801357G>T , CM000666.1:g.24801357G>T GRCh37
NC_000004.10:g.24410455G>T NCBI36
NG_012213.1:g.9273G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.214G>T MANE Select ENSP00000371554.3:p.Asp72Tyr
ENST00000382120.3:c.214G>T ENSP00000371554.3:p.Asp72Tyr
NM_003102.2:c.214G>T NP_003093.2:p.Asp72Tyr
XR_427488.1:n.404G>T
NM_003102.3:c.214G>T NP_003093.2:p.Asp72Tyr
NM_003102.4:c.214G>T MANE Select NP_003093.2:p.Asp72Tyr
Search 100 bp 5'
Search 100 bp 3'