Canonical Allele Identifier: CA2654222231

Gene: SOD1

Linked Data

• gnomAD v4: 21-31660050-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31660050T>G , CM000683.2:g.31660050T>G	GRCh38
NC_000021.8:g.33032363T>G , CM000683.1:g.33032363T>G	GRCh37
NC_000021.7:g.31954234T>G	NCBI36
NG_008689.1:g.5429T>G , LRG_652:g.5429T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.72+209T>G MANE Select	ENSP00000270142.7:n.72+209T>G
ENST00000270142.10:c.72+209T>G	ENSP00000270142.6:n.72+209T>G
ENST00000389995.4:c.15+266T>G	ENSP00000374645.4:n.15+266T>G
ENST00000470944.1:n.342T>G
ENST00000476106.5:n.149+209T>G
NM_000454.4:c.72+209T>G , LRG_652t1:c.72+209T>G	NP_000445.1:n.72+209T>G
NM_000454.5:c.72+209T>G MANE Select	NP_000445.1:n.72+209T>G