Canonical Allele Identifier: CA512111455
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1447729350
gnomAD v2: 21-33032136-C-T
gnomAD v3: 21-31659823-C-T
gnomAD v4: 21-31659823-C-T
MyVariant Identifiers: chr21:g.33032136C>T (hg19) chr21:g.31659823C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659823C>T , CM000683.2:g.31659823C>T GRCh38
NC_000021.8:g.33032136C>T , CM000683.1:g.33032136C>T GRCh37
NC_000021.7:g.31954007C>T NCBI36
NG_008689.1:g.5202C>T , LRG_652:g.5202C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.54C>T MANE Select ENSP00000270142.7:p.Ile18=
ENST00000270142.10:c.54C>T ENSP00000270142.6:p.Ile18=
ENST00000389995.4:c.15+39C>T ENSP00000374645.4:n.15+39C>T
ENST00000470944.1:n.115C>T
ENST00000476106.5:n.131C>T
NM_000454.4:c.54C>T , LRG_652t1:c.54C>T NP_000445.1:p.Ile18=
NM_000454.5:c.54C>T MANE Select NP_000445.1:p.Ile18=
Search 100 bp 5'
Search 100 bp 3'