Canonical Allele Identifier: CA319334562
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs11556619
MyVariant Identifiers: chr21:g.33039577T>C (hg19) chr21:g.31667264T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667264T>C , CM000683.2:g.31667264T>C GRCh38
NC_000021.8:g.33039577T>C , CM000683.1:g.33039577T>C GRCh37
NC_000021.7:g.31961448T>C NCBI36
NG_008689.1:g.12643T>C , LRG_652:g.12643T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.246T>C MANE Select ENSP00000270142.7:p.Val82=
ENST00000270142.10:c.246T>C ENSP00000270142.6:p.Val82=
ENST00000389995.4:c.189T>C ENSP00000374645.4:p.Val63=
ENST00000470944.1:n.1174T>C
ENST00000476106.5:n.509T>C
NM_000454.4:c.246T>C , LRG_652t1:c.246T>C NP_000445.1:p.Val82=
NM_000454.5:c.246T>C MANE Select NP_000445.1:p.Val82=
Search 100 bp 5'
Search 100 bp 3'