Canonical Allele Identifier: CA2385878883
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31664035T= , CM000683.2:g.31664035T= GRCh38
NC_000021.8:g.33036348T= , CM000683.1:g.33036348T= GRCh37
NC_000021.7:g.31958219T= NCBI36
NG_008689.1:g.9414T= , LRG_652:g.9414T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.169+149T= MANE Select ENSP00000270142.7:n.169+149T=
ENST00000270142.10:c.169+149T= ENSP00000270142.6:n.169+149T=
ENST00000389995.4:c.112+149T= ENSP00000374645.4:n.112+149T=
ENST00000470944.1:n.1097+149T=
ENST00000476106.5:n.432+149T=
NM_000454.4:c.169+149T= , LRG_652t1:c.169+149T= NP_000445.1:n.169+149T=
NM_000454.5:c.169+149T= MANE Select NP_000445.1:n.169+149T=