Canonical Allele Identifier: CA319330640
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs142752986
gnomAD v3: 21-31659722-T-G
gnomAD v4: 21-31659722-T-G
MyVariant Identifiers: chr21:g.33032035T>G (hg19) chr21:g.31659722T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659722T>G , CM000683.2:g.31659722T>G GRCh38
NC_000021.8:g.33032035T>G , CM000683.1:g.33032035T>G GRCh37
NC_000021.7:g.31953906T>G NCBI36
NG_008689.1:g.5101T>G , LRG_652:g.5101T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.-48T>G MANE Select ENSP00000270142.7:n.-48T>G
ENST00000270142.10:c.-48T>G ENSP00000270142.6:n.-48T>G
ENST00000389995.4:c.-48T>G ENSP00000374645.4:n.-48T>G
ENST00000470944.1:n.14T>G
ENST00000476106.5:n.30T>G
NM_000454.4:c.-48T>G , LRG_652t1:c.-48T>G NP_000445.1:n.-48T>G
NM_000454.5:c.-48T>G MANE Select NP_000445.1:n.-48T>G
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