Canonical Allele Identifier: CA356640593
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800208-G-T
MyVariant Identifiers: chr4:g.24801830G>T (hg19) chr4:g.24800208G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800208G>T , CM000666.2:g.24800208G>T GRCh38
NC_000004.11:g.24801830G>T , CM000666.1:g.24801830G>T GRCh37
NC_000004.10:g.24410928G>T NCBI36
NG_012213.1:g.9746G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.687G>T MANE Select ENSP00000371554.3:p.Lys229Asn
ENST00000382120.3:c.687G>T ENSP00000371554.3:p.Lys229Asn
NM_003102.2:c.687G>T NP_003093.2:p.Lys229Asn
XR_427488.1:n.877G>T
NM_003102.3:c.687G>T NP_003093.2:p.Lys229Asn
NM_003102.4:c.687G>T MANE Select NP_003093.2:p.Lys229Asn
Search 100 bp 5'
Search 100 bp 3'