Canonical Allele Identifier: CA410037372
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31667259-C-A
MyVariant Identifiers: chr21:g.33039572C>A (hg19) chr21:g.31667259C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667259C>A , CM000683.2:g.31667259C>A GRCh38
NC_000021.8:g.33039572C>A , CM000683.1:g.33039572C>A GRCh37
NC_000021.7:g.31961443C>A NCBI36
NG_008689.1:g.12638C>A , LRG_652:g.12638C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.241C>A MANE Select ENSP00000270142.7:p.His81Asn
ENST00000270142.10:c.241C>A ENSP00000270142.6:p.His81Asn
ENST00000389995.4:c.184C>A ENSP00000374645.4:p.His62Asn
ENST00000470944.1:n.1169C>A
ENST00000476106.5:n.504C>A
NM_000454.4:c.241C>A , LRG_652t1:c.241C>A NP_000445.1:p.His81Asn
NM_000454.5:c.241C>A MANE Select NP_000445.1:p.His81Asn
Search 100 bp 5'
Search 100 bp 3'