Canonical Allele Identifier: CA356640608
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800211-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800211G>T , CM000666.2:g.24800211G>T GRCh38
NC_000004.11:g.24801833G>T , CM000666.1:g.24801833G>T GRCh37
NC_000004.10:g.24410931G>T NCBI36
NG_012213.1:g.9749G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.690G>T MANE Select ENSP00000371554.3:p.Lys230Asn
ENST00000382120.3:c.690G>T ENSP00000371554.3:p.Lys230Asn
NM_003102.2:c.690G>T NP_003093.2:p.Lys230Asn
XR_427488.1:n.880G>T
NM_003102.3:c.690G>T NP_003093.2:p.Lys230Asn
NM_003102.4:c.690G>T MANE Select NP_003093.2:p.Lys230Asn