Canonical Allele Identifier: CA410037454

Gene: SOD1

Linked Data

• ClinVar Variation Id: 2817285
• ClinVar RCV Id: RCV003630384
• MyVariant Identifiers: chr21:g.33039609A>T (hg19) ; chr21:g.31667296A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667296A>T , CM000683.2:g.31667296A>T	GRCh38
NC_000021.8:g.33039609A>T , CM000683.1:g.33039609A>T	GRCh37
NC_000021.7:g.31961480A>T	NCBI36
NG_008689.1:g.12675A>T , LRG_652:g.12675A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.278A>T MANE Select	ENSP00000270142.7:p.Asp93Val
ENST00000270142.10:c.278A>T	ENSP00000270142.6:p.Asp93Val
ENST00000389995.4:c.221A>T	ENSP00000374645.4:p.Asp74Val
ENST00000470944.1:n.1206A>T
ENST00000476106.5:n.541A>T
NM_000454.4:c.278A>T , LRG_652t1:c.278A>T	NP_000445.1:p.Asp93Val
NM_000454.5:c.278A>T MANE Select	NP_000445.1:p.Asp93Val