Canonical Allele Identifier: CA512113741
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33039598T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667285T>A , CM000683.2:g.31667285T>A GRCh38
NC_000021.8:g.33039598T>A , CM000683.1:g.33039598T>A GRCh37
NC_000021.7:g.31961469T>A NCBI36
NG_008689.1:g.12664T>A , LRG_652:g.12664T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.267T>A MANE Select ENSP00000270142.7:p.Thr89=
ENST00000270142.10:c.267T>A ENSP00000270142.6:p.Thr89=
ENST00000389995.4:c.210T>A ENSP00000374645.4:p.Thr70=
ENST00000470944.1:n.1195T>A
ENST00000476106.5:n.530T>A
NM_000454.4:c.267T>A , LRG_652t1:c.267T>A NP_000445.1:p.Thr89=
NM_000454.5:c.267T>A MANE Select NP_000445.1:p.Thr89=
Search 100 bp 5'
Search 100 bp 3'