Canonical Allele Identifier: CA637245948

Gene: SOD1

Linked Data

• dbSNP Id: rs749428274
• gnomAD v2: 21-33032050-C-G
• gnomAD v3: 21-31659737-C-G
• gnomAD v4: 21-31659737-C-G
• MyVariant Identifiers: chr21:g.33032050C>G (hg19) ; chr21:g.31659737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659737C>G , CM000683.2:g.31659737C>G	GRCh38
NC_000021.8:g.33032050C>G , CM000683.1:g.33032050C>G	GRCh37
NC_000021.7:g.31953921C>G	NCBI36
NG_008689.1:g.5116C>G , LRG_652:g.5116C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.-33C>G MANE Select	ENSP00000270142.7:n.-33C>G
ENST00000270142.10:c.-33C>G	ENSP00000270142.6:n.-33C>G
ENST00000389995.4:c.-33C>G	ENSP00000374645.4:n.-33C>G
ENST00000470944.1:n.29C>G
ENST00000476106.5:n.45C>G
NM_000454.4:c.-33C>G , LRG_652t1:c.-33C>G	NP_000445.1:n.-33C>G
NM_000454.5:c.-33C>G MANE Select	NP_000445.1:n.-33C>G