Canonical Allele Identifier: CA748618393

Gene: SOD1

Linked Data

• dbSNP Id: rs555453865
• gnomAD v3: 21-31659716-T-C
• gnomAD v4: 21-31659716-T-C
• MyVariant Identifiers: chr21:g.33032029T>C (hg19) ; chr21:g.31659716T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659716T>C , CM000683.2:g.31659716T>C	GRCh38
NC_000021.8:g.33032029T>C , CM000683.1:g.33032029T>C	GRCh37
NC_000021.7:g.31953900T>C	NCBI36
NG_008689.1:g.5095T>C , LRG_652:g.5095T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000270142.11:c.-54T>C MANE Select	ENSP00000270142.7:n.-54T>C
ENST00000270142.10:c.-54T>C	ENSP00000270142.6:n.-54T>C
ENST00000389995.4:c.-54T>C	ENSP00000374645.4:n.-54T>C
ENST00000470944.1:n.8T>C
ENST00000476106.5:n.24T>C
NM_000454.4:c.-54T>C , LRG_652t1:c.-54T>C	NP_000445.1:n.-54T>C
NM_000454.5:c.-54T>C MANE Select	NP_000445.1:n.-54T>C