Canonical Allele Identifier: CA356638867
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799763-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799763T>C , CM000666.2:g.24799763T>C GRCh38
NC_000004.11:g.24801385T>C , CM000666.1:g.24801385T>C GRCh37
NC_000004.10:g.24410483T>C NCBI36
NG_012213.1:g.9301T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.242T>C MANE Select ENSP00000371554.3:p.Val81Ala
ENST00000382120.3:c.242T>C ENSP00000371554.3:p.Val81Ala
NM_003102.2:c.242T>C NP_003093.2:p.Val81Ala
XR_427488.1:n.432T>C
NM_003102.3:c.242T>C NP_003093.2:p.Val81Ala
NM_003102.4:c.242T>C MANE Select NP_003093.2:p.Val81Ala