Canonical Allele Identifier: CA2577489071
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659707T>A , CM000683.2:g.31659707T>A GRCh38
NC_000021.8:g.33032020T>A , CM000683.1:g.33032020T>A GRCh37
NC_000021.7:g.31953891T>A NCBI36
NG_008689.1:g.5086T>A , LRG_652:g.5086T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.-63T>A MANE Select ENSP00000270142.7:n.-63T>A
ENST00000270142.10:c.-63T>A ENSP00000270142.6:n.-63T>A
ENST00000389995.4:c.-63T>A ENSP00000374645.4:n.-63T>A
ENST00000476106.5:n.15T>A
NM_000454.4:c.-63T>A , LRG_652t1:c.-63T>A NP_000445.1:n.-63T>A
NM_000454.5:c.-63T>A MANE Select NP_000445.1:n.-63T>A