Canonical Allele Identifier: CA2385876847
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs551989025

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660220G>T , CM000683.2:g.31660220G>T GRCh38
NC_000021.8:g.33032533G>T , CM000683.1:g.33032533G>T GRCh37
NC_000021.7:g.31954404G>T NCBI36
NG_008689.1:g.5599G>T , LRG_652:g.5599G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+379G>T MANE Select ENSP00000270142.7:n.72+379G>T
ENST00000270142.10:c.72+379G>T ENSP00000270142.6:n.72+379G>T
ENST00000389995.4:c.15+436G>T ENSP00000374645.4:n.15+436G>T
ENST00000470944.1:n.512G>T
ENST00000476106.5:n.149+379G>T
NM_000454.4:c.72+379G>T , LRG_652t1:c.72+379G>T NP_000445.1:n.72+379G>T
NM_000454.5:c.72+379G>T MANE Select NP_000445.1:n.72+379G>T