Canonical Allele Identifier: CA9998884

Gene: SOD1

Linked Data

• dbSNP Id: rs571455561
• ExAC: 21:33036088 G / C
• gnomAD v2: 21-33036088-G-C
• gnomAD v3: 21-31663775-G-C
• gnomAD v4: 21-31663775-G-C
• MyVariant Identifiers: chr21:g.33036088G>C (hg19) ; chr21:g.31663775G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663775G>C , CM000683.2:g.31663775G>C	GRCh38
NC_000021.8:g.33036088G>C , CM000683.1:g.33036088G>C	GRCh37
NC_000021.7:g.31957959G>C	NCBI36
NG_008689.1:g.9154G>C , LRG_652:g.9154G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.73-15G>C MANE Select	ENSP00000270142.7:n.73-15G>C
ENST00000270142.10:c.73-15G>C	ENSP00000270142.6:n.73-15G>C
ENST00000389995.4:c.16-15G>C	ENSP00000374645.4:n.16-15G>C
ENST00000470944.1:n.1001-15G>C
ENST00000476106.5:n.336-15G>C
NM_000454.4:c.73-15G>C , LRG_652t1:c.73-15G>C	NP_000445.1:n.73-15G>C
NM_000454.5:c.73-15G>C MANE Select	NP_000445.1:n.73-15G>C