Canonical Allele Identifier: CA748619045

Gene: SOD1

Linked Data

• dbSNP Id: rs1001545830
• gnomAD v4: 21-31660219-C-T
• MyVariant Identifiers: chr21:g.33032532C>T (hg19) ; chr21:g.31660219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31660219C>T , CM000683.2:g.31660219C>T	GRCh38
NC_000021.8:g.33032532C>T , CM000683.1:g.33032532C>T	GRCh37
NC_000021.7:g.31954403C>T	NCBI36
NG_008689.1:g.5598C>T , LRG_652:g.5598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.72+378C>T MANE Select	ENSP00000270142.7:n.72+378C>T
ENST00000270142.10:c.72+378C>T	ENSP00000270142.6:n.72+378C>T
ENST00000389995.4:c.15+435C>T	ENSP00000374645.4:n.15+435C>T
ENST00000470944.1:n.511C>T
ENST00000476106.5:n.149+378C>T
NM_000454.4:c.72+378C>T , LRG_652t1:c.72+378C>T	NP_000445.1:n.72+378C>T
NM_000454.5:c.72+378C>T MANE Select	NP_000445.1:n.72+378C>T