Canonical Allele Identifier: CA410036698

Gene: SOD1

Linked Data

• gnomAD v4: 21-31663847-C-T
• MyVariant Identifiers: chr21:g.33036160C>T (hg19) ; chr21:g.31663847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663847C>T , CM000683.2:g.31663847C>T	GRCh38
NC_000021.8:g.33036160C>T , CM000683.1:g.33036160C>T	GRCh37
NC_000021.7:g.31958031C>T	NCBI36
NG_008689.1:g.9226C>T , LRG_652:g.9226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.130C>T MANE Select	ENSP00000270142.7:p.His44Tyr
ENST00000270142.10:c.130C>T	ENSP00000270142.6:p.His44Tyr
ENST00000389995.4:c.73C>T	ENSP00000374645.4:p.His25Tyr
ENST00000470944.1:n.1058C>T
ENST00000476106.5:n.393C>T
NM_000454.4:c.130C>T , LRG_652t1:c.130C>T	NP_000445.1:p.His44Tyr
NM_000454.5:c.130C>T MANE Select	NP_000445.1:p.His44Tyr