Canonical Allele Identifier: CA512113802
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1222874696
gnomAD v4: 21-31667372-G-A
MyVariant Identifiers: chr21:g.33039685G>A (hg19) chr21:g.31667372G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667372G>A , CM000683.2:g.31667372G>A GRCh38
NC_000021.8:g.33039685G>A , CM000683.1:g.33039685G>A GRCh37
NC_000021.7:g.31961556G>A NCBI36
NG_008689.1:g.12751G>A , LRG_652:g.12751G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.354G>A MANE Select ENSP00000270142.7:p.Leu118=
ENST00000270142.10:c.354G>A ENSP00000270142.6:p.Leu118=
ENST00000389995.4:c.297G>A ENSP00000374645.4:p.Leu99=
ENST00000470944.1:n.1282G>A
NM_000454.4:c.354G>A , LRG_652t1:c.354G>A NP_000445.1:p.Leu118=
NM_000454.5:c.354G>A MANE Select NP_000445.1:p.Leu118=
Search 100 bp 5'
Search 100 bp 3'