Canonical Allele Identifier: CA356640586
Gene: SOD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800206A>T , CM000666.2:g.24800206A>T GRCh38
NC_000004.11:g.24801828A>T , CM000666.1:g.24801828A>T GRCh37
NC_000004.10:g.24410926A>T NCBI36
NG_012213.1:g.9744A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.685A>T MANE Select ENSP00000371554.3:p.Lys229Ter
ENST00000382120.3:c.685A>T ENSP00000371554.3:p.Lys229Ter
NM_003102.2:c.685A>T NP_003093.2:p.Lys229Ter
XR_427488.1:n.875A>T
NM_003102.3:c.685A>T NP_003093.2:p.Lys229Ter
NM_003102.4:c.685A>T MANE Select NP_003093.2:p.Lys229Ter