Canonical Allele Identifier: CA512111495
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33036147G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663834G>A , CM000683.2:g.31663834G>A GRCh38
NC_000021.8:g.33036147G>A , CM000683.1:g.33036147G>A GRCh37
NC_000021.7:g.31958018G>A NCBI36
NG_008689.1:g.9213G>A , LRG_652:g.9213G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.117G>A MANE Select ENSP00000270142.7:p.Leu39=
ENST00000270142.10:c.117G>A ENSP00000270142.6:p.Leu39=
ENST00000389995.4:c.60G>A ENSP00000374645.4:p.Leu20=
ENST00000470944.1:n.1045G>A
ENST00000476106.5:n.380G>A
NM_000454.4:c.117G>A , LRG_652t1:c.117G>A NP_000445.1:p.Leu39=
NM_000454.5:c.117G>A MANE Select NP_000445.1:p.Leu39=
Search 100 bp 5'
Search 100 bp 3'