Canonical Allele Identifier: CA512113677
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33039544A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667231A>C , CM000683.2:g.31667231A>C GRCh38
NC_000021.8:g.33039544A>C , CM000683.1:g.33039544A>C GRCh37
NC_000021.7:g.31961415A>C NCBI36
NG_008689.1:g.12610A>C , LRG_652:g.12610A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.240-27A>C MANE Select ENSP00000270142.7:n.240-27A>C
ENST00000270142.10:c.240-27A>C ENSP00000270142.6:n.240-27A>C
ENST00000389995.4:c.183-27A>C ENSP00000374645.4:n.183-27A>C
ENST00000470944.1:n.1168-27A>C
ENST00000476106.5:n.503-27A>C
NM_000454.4:c.240-27A>C , LRG_652t1:c.240-27A>C NP_000445.1:n.240-27A>C
NM_000454.5:c.240-27A>C MANE Select NP_000445.1:n.240-27A>C
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