Canonical Allele Identifier: CA356638411
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799681-G-C
MyVariant Identifiers: chr4:g.24801303G>C (hg19) chr4:g.24799681G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799681G>C , CM000666.2:g.24799681G>C GRCh38
NC_000004.11:g.24801303G>C , CM000666.1:g.24801303G>C GRCh37
NC_000004.10:g.24410401G>C NCBI36
NG_012213.1:g.9219G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.160G>C MANE Select ENSP00000371554.3:p.Asp54His
ENST00000382120.3:c.160G>C ENSP00000371554.3:p.Asp54His
ENST00000598411.1:c.160G>C ENSP00000472134.1:p.Asp54His
NM_003102.2:c.160G>C NP_003093.2:p.Asp54His
XR_427488.1:n.350G>C
NM_003102.3:c.160G>C NP_003093.2:p.Asp54His
NM_003102.4:c.160G>C MANE Select NP_003093.2:p.Asp54His
Search 100 bp 5'
Search 100 bp 3'