Canonical Allele Identifier: CA2654223260
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31664015A>T , CM000683.2:g.31664015A>T GRCh38
NC_000021.8:g.33036328A>T , CM000683.1:g.33036328A>T GRCh37
NC_000021.7:g.31958199A>T NCBI36
NG_008689.1:g.9394A>T , LRG_652:g.9394A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.169+129A>T MANE Select ENSP00000270142.7:n.169+129A>T
ENST00000270142.10:c.169+129A>T ENSP00000270142.6:n.169+129A>T
ENST00000389995.4:c.112+129A>T ENSP00000374645.4:n.112+129A>T
ENST00000470944.1:n.1097+129A>T
ENST00000476106.5:n.432+129A>T
NM_000454.4:c.169+129A>T , LRG_652t1:c.169+129A>T NP_000445.1:n.169+129A>T
NM_000454.5:c.169+129A>T MANE Select NP_000445.1:n.169+129A>T