Canonical Allele Identifier: CA410037395

Gene: SOD1

Linked Data

• MyVariant Identifiers: chr21:g.33039582A>T (hg19) ; chr21:g.31667269A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667269A>T , CM000683.2:g.31667269A>T	GRCh38
NC_000021.8:g.33039582A>T , CM000683.1:g.33039582A>T	GRCh37
NC_000021.7:g.31961453A>T	NCBI36
NG_008689.1:g.12648A>T , LRG_652:g.12648A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.251A>T MANE Select	ENSP00000270142.7:p.Asp84Val
ENST00000270142.10:c.251A>T	ENSP00000270142.6:p.Asp84Val
ENST00000389995.4:c.194A>T	ENSP00000374645.4:p.Asp65Val
ENST00000470944.1:n.1179A>T
ENST00000476106.5:n.514A>T
NM_000454.4:c.251A>T , LRG_652t1:c.251A>T	NP_000445.1:p.Asp84Val
NM_000454.5:c.251A>T MANE Select	NP_000445.1:p.Asp84Val