Canonical Allele Identifier: CA410037557

Gene: SOD1

Linked Data

• dbSNP Id: rs2049603707
• gnomAD v4: 21-31667349-C-G
• MyVariant Identifiers: chr21:g.33039662C>G (hg19) ; chr21:g.31667349C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667349C>G , CM000683.2:g.31667349C>G	GRCh38
NC_000021.8:g.33039662C>G , CM000683.1:g.33039662C>G	GRCh37
NC_000021.7:g.31961533C>G	NCBI36
NG_008689.1:g.12728C>G , LRG_652:g.12728C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.331C>G MANE Select	ENSP00000270142.7:p.His111Asp
ENST00000270142.10:c.331C>G	ENSP00000270142.6:p.His111Asp
ENST00000389995.4:c.274C>G	ENSP00000374645.4:p.His92Asp
ENST00000470944.1:n.1259C>G
NM_000454.4:c.331C>G , LRG_652t1:c.331C>G	NP_000445.1:p.His111Asp
NM_000454.5:c.331C>G MANE Select	NP_000445.1:p.His111Asp