Canonical Allele Identifier: CA512113596
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31667203-A-C
MyVariant Identifiers: chr21:g.33039516A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667203A>C , CM000683.2:g.31667203A>C GRCh38
NC_000021.8:g.33039516A>C , CM000683.1:g.33039516A>C GRCh37
NC_000021.7:g.31961387A>C NCBI36
NG_008689.1:g.12582A>C , LRG_652:g.12582A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.240-55A>C MANE Select ENSP00000270142.7:n.240-55A>C
ENST00000270142.10:c.240-55A>C ENSP00000270142.6:n.240-55A>C
ENST00000389995.4:c.183-55A>C ENSP00000374645.4:n.183-55A>C
ENST00000470944.1:n.1168-55A>C
ENST00000476106.5:n.503-55A>C
NM_000454.4:c.240-55A>C , LRG_652t1:c.240-55A>C NP_000445.1:n.240-55A>C
NM_000454.5:c.240-55A>C MANE Select NP_000445.1:n.240-55A>C
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