Canonical Allele Identifier: CA410037484
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33039626T>A (hg19) chr21:g.31667313T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667313T>A , CM000683.2:g.31667313T>A GRCh38
NC_000021.8:g.33039626T>A , CM000683.1:g.33039626T>A GRCh37
NC_000021.7:g.31961497T>A NCBI36
NG_008689.1:g.12692T>A , LRG_652:g.12692T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.295T>A MANE Select ENSP00000270142.7:p.Ser99Thr
ENST00000270142.10:c.295T>A ENSP00000270142.6:p.Ser99Thr
ENST00000389995.4:c.238T>A ENSP00000374645.4:p.Ser80Thr
ENST00000470944.1:n.1223T>A
ENST00000476106.5:n.558T>A
NM_000454.4:c.295T>A , LRG_652t1:c.295T>A NP_000445.1:p.Ser99Thr
NM_000454.5:c.295T>A MANE Select NP_000445.1:p.Ser99Thr
Search 100 bp 5'
Search 100 bp 3'