Canonical Allele Identifier: CA2385880629

Gene: SOD1

Linked Data

• dbSNP Id: rs2049607816

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667636A>G , CM000683.2:g.31667636A>G	GRCh38
NC_000021.8:g.33039949A>G , CM000683.1:g.33039949A>G	GRCh37
NC_000021.7:g.31961820A>G	NCBI36
NG_008689.1:g.13015A>G , LRG_652:g.13015A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+261A>G MANE Select	ENSP00000270142.7:n.357+261A>G
ENST00000270142.10:c.357+261A>G	ENSP00000270142.6:n.357+261A>G
ENST00000389995.4:c.300+261A>G	ENSP00000374645.4:n.300+261A>G
ENST00000470944.1:n.1285+261A>G
NM_000454.4:c.357+261A>G , LRG_652t1:c.357+261A>G	NP_000445.1:n.357+261A>G
NM_000454.5:c.357+261A>G MANE Select	NP_000445.1:n.357+261A>G