Canonical Allele Identifier: CA2385876600
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659837A= , CM000683.2:g.31659837A= GRCh38
NC_000021.8:g.33032150A= , CM000683.1:g.33032150A= GRCh37
NC_000021.7:g.31954021A= NCBI36
NG_008689.1:g.5216A= , LRG_652:g.5216A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.68A= MANE Select ENSP00000270142.7:p.Gln23=
ENST00000270142.10:c.68A= ENSP00000270142.6:p.Gln23=
ENST00000389995.4:c.15+53A= ENSP00000374645.4:n.15+53A=
ENST00000470944.1:n.129A=
ENST00000476106.5:n.145A=
NM_000454.4:c.68A= , LRG_652t1:c.68A= NP_000445.1:p.Gln23=
NM_000454.5:c.68A= MANE Select NP_000445.1:p.Gln23=