Canonical Allele Identifier: CA2838726052
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659698G>T , CM000683.2:g.31659698G>T GRCh38
NC_000021.8:g.33032011G>T , CM000683.1:g.33032011G>T GRCh37
NC_000021.7:g.31953882G>T NCBI36
NG_008689.1:g.5077G>T , LRG_652:g.5077G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.-72G>T MANE Select ENSP00000270142.7:n.-72G>T
ENST00000270142.10:c.-72G>T ENSP00000270142.6:n.-72G>T
ENST00000389995.4:c.-72G>T ENSP00000374645.4:n.-72G>T
ENST00000476106.5:n.6G>T
NM_000454.4:c.-72G>T , LRG_652t1:c.-72G>T NP_000445.1:n.-72G>T
NM_000454.5:c.-72G>T MANE Select NP_000445.1:n.-72G>T