Canonical Allele Identifier: CA512111291
Gene: SOD1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1259366749
gnomAD v2: 21-33031784-C-T
gnomAD v3: 21-31659471-C-T
gnomAD v4: 21-31659471-C-T
MyVariant Identifiers: chr21:g.33031784C>T (hg19) chr21:g.31659471C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659471C>T , CM000683.2:g.31659471C>T GRCh38
NC_000021.8:g.33031784C>T , CM000683.1:g.33031784C>T GRCh37
NC_000021.7:g.31953655C>T NCBI36
NG_008689.1:g.4850C>T , LRG_652:g.4850C>T

Transcript Alleles

HGVS Amino-acid Change
XR_430363.2:n.50G>A
XR_937662.1:n.50G>A
XR_002958653.1:n.14G>A
XR_430363.3:n.85G>A
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