Canonical Allele Identifier: CA637245947

Gene: SOD1

Linked Data

• dbSNP Id: rs1336129013
• gnomAD v2: 21-33032048-C-T
• gnomAD v3: 21-31659735-C-T
• gnomAD v4: 21-31659735-C-T
• MyVariant Identifiers: chr21:g.33032048C>T (hg19) ; chr21:g.31659735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659735C>T , CM000683.2:g.31659735C>T	GRCh38
NC_000021.8:g.33032048C>T , CM000683.1:g.33032048C>T	GRCh37
NC_000021.7:g.31953919C>T	NCBI36
NG_008689.1:g.5114C>T , LRG_652:g.5114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.-35C>T MANE Select	ENSP00000270142.7:n.-35C>T
ENST00000270142.10:c.-35C>T	ENSP00000270142.6:n.-35C>T
ENST00000389995.4:c.-35C>T	ENSP00000374645.4:n.-35C>T
ENST00000470944.1:n.27C>T
ENST00000476106.5:n.43C>T
NM_000454.4:c.-35C>T , LRG_652t1:c.-35C>T	NP_000445.1:n.-35C>T
NM_000454.5:c.-35C>T MANE Select	NP_000445.1:n.-35C>T