Canonical Allele Identifier: CA410036090

Gene: SOD1

Linked Data

• MyVariant Identifiers: chr21:g.33032148G>T (hg19) ; chr21:g.31659835G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659835G>T , CM000683.2:g.31659835G>T	GRCh38
NC_000021.8:g.33032148G>T , CM000683.1:g.33032148G>T	GRCh37
NC_000021.7:g.31954019G>T	NCBI36
NG_008689.1:g.5214G>T , LRG_652:g.5214G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000270142.11:c.66G>T MANE Select	ENSP00000270142.7:p.Glu22Asp
ENST00000270142.10:c.66G>T	ENSP00000270142.6:p.Glu22Asp
ENST00000389995.4:c.15+51G>T	ENSP00000374645.4:n.15+51G>T
ENST00000470944.1:n.127G>T
ENST00000476106.5:n.143G>T
NM_000454.4:c.66G>T , LRG_652t1:c.66G>T	NP_000445.1:p.Glu22Asp
NM_000454.5:c.66G>T MANE Select	NP_000445.1:p.Glu22Asp