Canonical Allele Identifier: CA2385880404
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667273G= , CM000683.2:g.31667273G= GRCh38
NC_000021.8:g.33039586G= , CM000683.1:g.33039586G= GRCh37
NC_000021.7:g.31961457G= NCBI36
NG_008689.1:g.12652G= , LRG_652:g.12652G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.255G= MANE Select ENSP00000270142.7:p.Leu85=
ENST00000270142.10:c.255G= ENSP00000270142.6:p.Leu85=
ENST00000389995.4:c.198G= ENSP00000374645.4:p.Leu66=
ENST00000470944.1:n.1183G=
ENST00000476106.5:n.518G=
NM_000454.4:c.255G= , LRG_652t1:c.255G= NP_000445.1:p.Leu85=
NM_000454.5:c.255G= MANE Select NP_000445.1:p.Leu85=