Canonical Allele Identifier: CA9998871
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs540569412
ExAC: 21:33032202 C / T
gnomAD v2: 21-33032202-C-T
gnomAD v3: 21-31659889-C-T
gnomAD v4: 21-31659889-C-T
MyVariant Identifiers: chr21:g.33032202C>T (hg19) chr21:g.31659889C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659889C>T , CM000683.2:g.31659889C>T GRCh38
NC_000021.8:g.33032202C>T , CM000683.1:g.33032202C>T GRCh37
NC_000021.7:g.31954073C>T NCBI36
NG_008689.1:g.5268C>T , LRG_652:g.5268C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+48C>T MANE Select ENSP00000270142.7:n.72+48C>T
ENST00000270142.10:c.72+48C>T ENSP00000270142.6:n.72+48C>T
ENST00000389995.4:c.15+105C>T ENSP00000374645.4:n.15+105C>T
ENST00000470944.1:n.181C>T
ENST00000476106.5:n.149+48C>T
NM_000454.4:c.72+48C>T , LRG_652t1:c.72+48C>T NP_000445.1:n.72+48C>T
NM_000454.5:c.72+48C>T MANE Select NP_000445.1:n.72+48C>T
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