Canonical Allele Identifier: CA410037479
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33039623G>T (hg19) chr21:g.31667310G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667310G>T , CM000683.2:g.31667310G>T GRCh38
NC_000021.8:g.33039623G>T , CM000683.1:g.33039623G>T GRCh37
NC_000021.7:g.31961494G>T NCBI36
NG_008689.1:g.12689G>T , LRG_652:g.12689G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.292G>T MANE Select ENSP00000270142.7:p.Val98Leu
ENST00000270142.10:c.292G>T ENSP00000270142.6:p.Val98Leu
ENST00000389995.4:c.235G>T ENSP00000374645.4:p.Val79Leu
ENST00000470944.1:n.1220G>T
ENST00000476106.5:n.555G>T
NM_000454.4:c.292G>T , LRG_652t1:c.292G>T NP_000445.1:p.Val98Leu
NM_000454.5:c.292G>T MANE Select NP_000445.1:p.Val98Leu
Search 100 bp 5'
Search 100 bp 3'