Canonical Allele Identifier: CA257364
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14782
ClinVar RCV Id: RCV000015905
dbSNP Id: rs121912458

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667260A>G , CM000683.2:g.31667260A>G GRCh38
NC_000021.8:g.33039573A>G , CM000683.1:g.33039573A>G GRCh37
NC_000021.7:g.31961444A>G NCBI36
NG_008689.1:g.12639A>G , LRG_652:g.12639A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.242A>G MANE Select ENSP00000270142.7:p.His81Arg
ENST00000270142.10:c.242A>G ENSP00000270142.6:p.His81Arg
ENST00000389995.4:c.185A>G ENSP00000374645.4:p.His62Arg
ENST00000470944.1:n.1170A>G
ENST00000476106.5:n.505A>G
NM_000454.4:c.242A>G , LRG_652t1:c.242A>G NP_000445.1:p.His81Arg
NM_000454.5:c.242A>G MANE Select NP_000445.1:p.His81Arg