Canonical Allele Identifier: CA512113706
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33039554T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667241T>A , CM000683.2:g.31667241T>A GRCh38
NC_000021.8:g.33039554T>A , CM000683.1:g.33039554T>A GRCh37
NC_000021.7:g.31961425T>A NCBI36
NG_008689.1:g.12620T>A , LRG_652:g.12620T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.240-17T>A MANE Select ENSP00000270142.7:n.240-17T>A
ENST00000270142.10:c.240-17T>A ENSP00000270142.6:n.240-17T>A
ENST00000389995.4:c.183-17T>A ENSP00000374645.4:n.183-17T>A
ENST00000470944.1:n.1168-17T>A
ENST00000476106.5:n.503-17T>A
NM_000454.4:c.240-17T>A , LRG_652t1:c.240-17T>A NP_000445.1:n.240-17T>A
NM_000454.5:c.240-17T>A MANE Select NP_000445.1:n.240-17T>A
Search 100 bp 5'
Search 100 bp 3'