Canonical Allele Identifier: CA9998833
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs775589608
ExAC: 21:33032034 T / A
gnomAD v2: 21-33032034-T-A
gnomAD v4: 21-31659721-T-A
MyVariant Identifiers: chr21:g.33032034T>A (hg19) chr21:g.31659721T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659721T>A , CM000683.2:g.31659721T>A GRCh38
NC_000021.8:g.33032034T>A , CM000683.1:g.33032034T>A GRCh37
NC_000021.7:g.31953905T>A NCBI36
NG_008689.1:g.5100T>A , LRG_652:g.5100T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.-49T>A MANE Select ENSP00000270142.7:n.-49T>A
ENST00000270142.10:c.-49T>A ENSP00000270142.6:n.-49T>A
ENST00000389995.4:c.-49T>A ENSP00000374645.4:n.-49T>A
ENST00000470944.1:n.13T>A
ENST00000476106.5:n.29T>A
NM_000454.4:c.-49T>A , LRG_652t1:c.-49T>A NP_000445.1:n.-49T>A
NM_000454.5:c.-49T>A MANE Select NP_000445.1:n.-49T>A
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