Canonical Allele Identifier: CA512113797
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs757951479
gnomAD v4: 21-31667369-A-G
MyVariant Identifiers: chr21:g.33039682A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667369A>G , CM000683.2:g.31667369A>G GRCh38
NC_000021.8:g.33039682A>G , CM000683.1:g.33039682A>G GRCh37
NC_000021.7:g.31961553A>G NCBI36
NG_008689.1:g.12748A>G , LRG_652:g.12748A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.351A>G MANE Select ENSP00000270142.7:p.Thr117=
ENST00000270142.10:c.351A>G ENSP00000270142.6:p.Thr117=
ENST00000389995.4:c.294A>G ENSP00000374645.4:p.Thr98=
ENST00000470944.1:n.1279A>G
NM_000454.4:c.351A>G , LRG_652t1:c.351A>G NP_000445.1:p.Thr117=
NM_000454.5:c.351A>G MANE Select NP_000445.1:p.Thr117=
Search 100 bp 5'
Search 100 bp 3'