Canonical Allele Identifier: CA356638421
Gene: SOD3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.24801304A>C (hg19) chr4:g.24799682A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799682A>C , CM000666.2:g.24799682A>C GRCh38
NC_000004.11:g.24801304A>C , CM000666.1:g.24801304A>C GRCh37
NC_000004.10:g.24410402A>C NCBI36
NG_012213.1:g.9220A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.161A>C MANE Select ENSP00000371554.3:p.Asp54Ala
ENST00000382120.3:c.161A>C ENSP00000371554.3:p.Asp54Ala
ENST00000598411.1:c.161A>C ENSP00000472134.1:p.Asp54Ala
NM_003102.2:c.161A>C NP_003093.2:p.Asp54Ala
XR_427488.1:n.351A>C
NM_003102.3:c.161A>C NP_003093.2:p.Asp54Ala
NM_003102.4:c.161A>C MANE Select NP_003093.2:p.Asp54Ala
Search 100 bp 5'
Search 100 bp 3'