Canonical Allele Identifier: CA319334677
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs908732457
gnomAD v4: 21-31667375-G-A
MyVariant Identifiers: chr21:g.33039688G>A (hg19) chr21:g.31667375G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667375G>A , CM000683.2:g.31667375G>A GRCh38
NC_000021.8:g.33039688G>A , CM000683.1:g.33039688G>A GRCh37
NC_000021.7:g.31961559G>A NCBI36
NG_008689.1:g.12754G>A , LRG_652:g.12754G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357G>A MANE Select ENSP00000270142.7:p.Val119=
ENST00000270142.10:c.357G>A ENSP00000270142.6:p.Val119=
ENST00000389995.4:c.300G>A ENSP00000374645.4:p.Val100=
ENST00000470944.1:n.1285G>A
NM_000454.4:c.357G>A , LRG_652t1:c.357G>A NP_000445.1:p.Val119=
NM_000454.5:c.357G>A MANE Select NP_000445.1:p.Val119=
Search 100 bp 5'
Search 100 bp 3'