Canonical Allele Identifier: CA319334497

Gene: SOD1

Linked Data

• dbSNP Id: rs549304039
• gnomAD v3: 21-31667139-A-G
• gnomAD v4: 21-31667139-A-G
• MyVariant Identifiers: chr21:g.33039452A>G (hg19) ; chr21:g.31667139A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667139A>G , CM000683.2:g.31667139A>G	GRCh38
NC_000021.8:g.33039452A>G , CM000683.1:g.33039452A>G	GRCh37
NC_000021.7:g.31961323A>G	NCBI36
NG_008689.1:g.12518A>G , LRG_652:g.12518A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.240-119A>G MANE Select	ENSP00000270142.7:n.240-119A>G
ENST00000270142.10:c.240-119A>G	ENSP00000270142.6:n.240-119A>G
ENST00000389995.4:c.183-119A>G	ENSP00000374645.4:n.183-119A>G
ENST00000470944.1:n.1168-119A>G
ENST00000476106.5:n.503-119A>G
NM_000454.4:c.240-119A>G , LRG_652t1:c.240-119A>G	NP_000445.1:n.240-119A>G
NM_000454.5:c.240-119A>G MANE Select	NP_000445.1:n.240-119A>G