Canonical Allele Identifier: CA2385880482
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667379A= , CM000683.2:g.31667379A= GRCh38
NC_000021.8:g.33039692A= , CM000683.1:g.33039692A= GRCh37
NC_000021.7:g.31961563A= NCBI36
NG_008689.1:g.12758A= , LRG_652:g.12758A=

Transcript Alleles

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