Canonical Allele Identifier: CA2385880582
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667543T= , CM000683.2:g.31667543T= GRCh38
NC_000021.8:g.33039856T= , CM000683.1:g.33039856T= GRCh37
NC_000021.7:g.31961727T= NCBI36
NG_008689.1:g.12922T= , LRG_652:g.12922T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+168T= MANE Select ENSP00000270142.7:n.357+168T=
ENST00000270142.10:c.357+168T= ENSP00000270142.6:n.357+168T=
ENST00000389995.4:c.300+168T= ENSP00000374645.4:n.300+168T=
ENST00000470944.1:n.1285+168T=
NM_000454.4:c.357+168T= , LRG_652t1:c.357+168T= NP_000445.1:n.357+168T=
NM_000454.5:c.357+168T= MANE Select NP_000445.1:n.357+168T=