Canonical Allele Identifier: CA2385880443
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667325T= , CM000683.2:g.31667325T= GRCh38
NC_000021.8:g.33039638T= , CM000683.1:g.33039638T= GRCh37
NC_000021.7:g.31961509T= NCBI36
NG_008689.1:g.12704T= , LRG_652:g.12704T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.307T= MANE Select ENSP00000270142.7:p.Ser103=
ENST00000270142.10:c.307T= ENSP00000270142.6:p.Ser103=
ENST00000389995.4:c.250T= ENSP00000374645.4:p.Ser84=
ENST00000470944.1:n.1235T=
ENST00000476106.5:n.570T=
NM_000454.4:c.307T= , LRG_652t1:c.307T= NP_000445.1:p.Ser103=
NM_000454.5:c.307T= MANE Select NP_000445.1:p.Ser103=