Canonical Allele Identifier: CA410036064
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33032142T>G (hg19) chr21:g.31659829T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659829T>G , CM000683.2:g.31659829T>G GRCh38
NC_000021.8:g.33032142T>G , CM000683.1:g.33032142T>G GRCh37
NC_000021.7:g.31954013T>G NCBI36
NG_008689.1:g.5208T>G , LRG_652:g.5208T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.60T>G MANE Select ENSP00000270142.7:p.Asn20Lys
ENST00000270142.10:c.60T>G ENSP00000270142.6:p.Asn20Lys
ENST00000389995.4:c.15+45T>G ENSP00000374645.4:n.15+45T>G
ENST00000470944.1:n.121T>G
ENST00000476106.5:n.137T>G
NM_000454.4:c.60T>G , LRG_652t1:c.60T>G NP_000445.1:p.Asn20Lys
NM_000454.5:c.60T>G MANE Select NP_000445.1:p.Asn20Lys
Search 100 bp 5'
Search 100 bp 3'