Canonical Allele Identifier: CA748618968
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1237318710
gnomAD v4: 21-31660118-G-A
MyVariant Identifiers: chr21:g.33032431G>A (hg19) chr21:g.31660118G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660118G>A , CM000683.2:g.31660118G>A GRCh38
NC_000021.8:g.33032431G>A , CM000683.1:g.33032431G>A GRCh37
NC_000021.7:g.31954302G>A NCBI36
NG_008689.1:g.5497G>A , LRG_652:g.5497G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+277G>A MANE Select ENSP00000270142.7:n.72+277G>A
ENST00000270142.10:c.72+277G>A ENSP00000270142.6:n.72+277G>A
ENST00000389995.4:c.15+334G>A ENSP00000374645.4:n.15+334G>A
ENST00000470944.1:n.410G>A
ENST00000476106.5:n.149+277G>A
NM_000454.4:c.72+277G>A , LRG_652t1:c.72+277G>A NP_000445.1:n.72+277G>A
NM_000454.5:c.72+277G>A MANE Select NP_000445.1:n.72+277G>A
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