Canonical Allele Identifier: CA410037537
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667340T>A , CM000683.2:g.31667340T>A GRCh38
NC_000021.8:g.33039653T>A , CM000683.1:g.33039653T>A GRCh37
NC_000021.7:g.31961524T>A NCBI36
NG_008689.1:g.12719T>A , LRG_652:g.12719T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.322T>A MANE Select ENSP00000270142.7:p.Ser108Thr
ENST00000270142.10:c.322T>A ENSP00000270142.6:p.Ser108Thr
ENST00000389995.4:c.265T>A ENSP00000374645.4:p.Ser89Thr
ENST00000470944.1:n.1250T>A
ENST00000476106.5:n.585T>A
NM_000454.4:c.322T>A , LRG_652t1:c.322T>A NP_000445.1:p.Ser108Thr
NM_000454.5:c.322T>A MANE Select NP_000445.1:p.Ser108Thr