Canonical Allele Identifier: CA512113707
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33039554T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667241T>C , CM000683.2:g.31667241T>C GRCh38
NC_000021.8:g.33039554T>C , CM000683.1:g.33039554T>C GRCh37
NC_000021.7:g.31961425T>C NCBI36
NG_008689.1:g.12620T>C , LRG_652:g.12620T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.240-17T>C MANE Select ENSP00000270142.7:n.240-17T>C
ENST00000270142.10:c.240-17T>C ENSP00000270142.6:n.240-17T>C
ENST00000389995.4:c.183-17T>C ENSP00000374645.4:n.183-17T>C
ENST00000470944.1:n.1168-17T>C
ENST00000476106.5:n.503-17T>C
NM_000454.4:c.240-17T>C , LRG_652t1:c.240-17T>C NP_000445.1:n.240-17T>C
NM_000454.5:c.240-17T>C MANE Select NP_000445.1:n.240-17T>C
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