Canonical Allele Identifier: CA410036087

Gene: SOD1

Linked Data

• MyVariant Identifiers: chr21:g.33032147A>T (hg19) ; chr21:g.31659834A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659834A>T , CM000683.2:g.31659834A>T	GRCh38
NC_000021.8:g.33032147A>T , CM000683.1:g.33032147A>T	GRCh37
NC_000021.7:g.31954018A>T	NCBI36
NG_008689.1:g.5213A>T , LRG_652:g.5213A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000270142.11:c.65A>T MANE Select	ENSP00000270142.7:p.Glu22Val
ENST00000270142.10:c.65A>T	ENSP00000270142.6:p.Glu22Val
ENST00000389995.4:c.15+50A>T	ENSP00000374645.4:n.15+50A>T
ENST00000470944.1:n.126A>T
ENST00000476106.5:n.142A>T
NM_000454.4:c.65A>T , LRG_652t1:c.65A>T	NP_000445.1:p.Glu22Val
NM_000454.5:c.65A>T MANE Select	NP_000445.1:p.Glu22Val