Canonical Allele Identifier: CA2385880621
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667615C= , CM000683.2:g.31667615C= GRCh38
NC_000021.8:g.33039928C= , CM000683.1:g.33039928C= GRCh37
NC_000021.7:g.31961799C= NCBI36
NG_008689.1:g.12994C= , LRG_652:g.12994C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+240C= MANE Select ENSP00000270142.7:n.357+240C=
ENST00000270142.10:c.357+240C= ENSP00000270142.6:n.357+240C=
ENST00000389995.4:c.300+240C= ENSP00000374645.4:n.300+240C=
ENST00000470944.1:n.1285+240C=
NM_000454.4:c.357+240C= , LRG_652t1:c.357+240C= NP_000445.1:n.357+240C=
NM_000454.5:c.357+240C= MANE Select NP_000445.1:n.357+240C=