Canonical Allele Identifier: CA2385880593
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667562C= , CM000683.2:g.31667562C= GRCh38
NC_000021.8:g.33039875C= , CM000683.1:g.33039875C= GRCh37
NC_000021.7:g.31961746C= NCBI36
NG_008689.1:g.12941C= , LRG_652:g.12941C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+187C= MANE Select ENSP00000270142.7:n.357+187C=
ENST00000270142.10:c.357+187C= ENSP00000270142.6:n.357+187C=
ENST00000389995.4:c.300+187C= ENSP00000374645.4:n.300+187C=
ENST00000470944.1:n.1285+187C=
NM_000454.4:c.357+187C= , LRG_652t1:c.357+187C= NP_000445.1:n.357+187C=
NM_000454.5:c.357+187C= MANE Select NP_000445.1:n.357+187C=