Canonical Allele Identifier: CA2385880437
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667316A= , CM000683.2:g.31667316A= GRCh38
NC_000021.8:g.33039629A= , CM000683.1:g.33039629A= GRCh37
NC_000021.7:g.31961500A= NCBI36
NG_008689.1:g.12695A= , LRG_652:g.12695A=

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.298A= MANE Select ENSP00000270142.7:p.Ile100=
ENST00000270142.10:c.298A= ENSP00000270142.6:p.Ile100=
ENST00000389995.4:c.241A= ENSP00000374645.4:p.Ile81=
ENST00000470944.1:n.1226A=
ENST00000476106.5:n.561A=
NM_000454.4:c.298A= , LRG_652t1:c.298A= NP_000445.1:p.Ile100=
NM_000454.5:c.298A= MANE Select NP_000445.1:p.Ile100=