Canonical Allele Identifier: CA2654221962
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659697C>A , CM000683.2:g.31659697C>A GRCh38
NC_000021.8:g.33032010C>A , CM000683.1:g.33032010C>A GRCh37
NC_000021.7:g.31953881C>A NCBI36
NG_008689.1:g.5076C>A , LRG_652:g.5076C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.-73C>A MANE Select ENSP00000270142.7:n.-73C>A
ENST00000270142.10:c.-73C>A ENSP00000270142.6:n.-73C>A
ENST00000389995.4:c.-73C>A ENSP00000374645.4:n.-73C>A
ENST00000476106.5:n.5C>A
NM_000454.4:c.-73C>A , LRG_652t1:c.-73C>A NP_000445.1:n.-73C>A
NM_000454.5:c.-73C>A MANE Select NP_000445.1:n.-73C>A