Canonical Allele Identifier: CA2385880459
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667351T= , CM000683.2:g.31667351T= GRCh38
NC_000021.8:g.33039664T= , CM000683.1:g.33039664T= GRCh37
NC_000021.7:g.31961535T= NCBI36
NG_008689.1:g.12730T= , LRG_652:g.12730T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.333T= MANE Select ENSP00000270142.7:p.His111=
ENST00000270142.10:c.333T= ENSP00000270142.6:p.His111=
ENST00000389995.4:c.276T= ENSP00000374645.4:p.His92=
ENST00000470944.1:n.1261T=
NM_000454.4:c.333T= , LRG_652t1:c.333T= NP_000445.1:p.His111=
NM_000454.5:c.333T= MANE Select NP_000445.1:p.His111=