Canonical Allele Identifier: CA410037476
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667309T>G , CM000683.2:g.31667309T>G GRCh38
NC_000021.8:g.33039622T>G , CM000683.1:g.33039622T>G GRCh37
NC_000021.7:g.31961493T>G NCBI36
NG_008689.1:g.12688T>G , LRG_652:g.12688T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.291T>G MANE Select ENSP00000270142.7:p.Asp97Glu
ENST00000270142.10:c.291T>G ENSP00000270142.6:p.Asp97Glu
ENST00000389995.4:c.234T>G ENSP00000374645.4:p.Asp78Glu
ENST00000470944.1:n.1219T>G
ENST00000476106.5:n.554T>G
NM_000454.4:c.291T>G , LRG_652t1:c.291T>G NP_000445.1:p.Asp97Glu
NM_000454.5:c.291T>G MANE Select NP_000445.1:p.Asp97Glu