Canonical Allele Identifier: CA410036039
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33032135T>G (hg19) chr21:g.31659822T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659822T>G , CM000683.2:g.31659822T>G GRCh38
NC_000021.8:g.33032135T>G , CM000683.1:g.33032135T>G GRCh37
NC_000021.7:g.31954006T>G NCBI36
NG_008689.1:g.5201T>G , LRG_652:g.5201T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.53T>G MANE Select ENSP00000270142.7:p.Ile18Ser
ENST00000270142.10:c.53T>G ENSP00000270142.6:p.Ile18Ser
ENST00000389995.4:c.15+38T>G ENSP00000374645.4:n.15+38T>G
ENST00000470944.1:n.114T>G
ENST00000476106.5:n.130T>G
NM_000454.4:c.53T>G , LRG_652t1:c.53T>G NP_000445.1:p.Ile18Ser
NM_000454.5:c.53T>G MANE Select NP_000445.1:p.Ile18Ser
Search 100 bp 5'
Search 100 bp 3'