Canonical Allele Identifier: CA512113615
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33039522A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667209A>G , CM000683.2:g.31667209A>G GRCh38
NC_000021.8:g.33039522A>G , CM000683.1:g.33039522A>G GRCh37
NC_000021.7:g.31961393A>G NCBI36
NG_008689.1:g.12588A>G , LRG_652:g.12588A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.240-49A>G MANE Select ENSP00000270142.7:n.240-49A>G
ENST00000270142.10:c.240-49A>G ENSP00000270142.6:n.240-49A>G
ENST00000389995.4:c.183-49A>G ENSP00000374645.4:n.183-49A>G
ENST00000470944.1:n.1168-49A>G
ENST00000476106.5:n.503-49A>G
NM_000454.4:c.240-49A>G , LRG_652t1:c.240-49A>G NP_000445.1:n.240-49A>G
NM_000454.5:c.240-49A>G MANE Select NP_000445.1:n.240-49A>G