Canonical Allele Identifier: CA748636064
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1225699958

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667441dup , CM000683.2:g.31667441dup GRCh38
NC_000021.8:g.33039754dup , CM000683.1:g.33039754dup GRCh37
NC_000021.7:g.31961625dup NCBI36
NG_008689.1:g.12820dup , LRG_652:g.12820dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+66dup MANE Select ENSP00000270142.7:n.357+66dup
ENST00000270142.10:c.357+66dup ENSP00000270142.6:n.357+66dup
ENST00000389995.4:c.300+66dup ENSP00000374645.4:n.300+66dup
ENST00000470944.1:n.1285+66dup
NM_000454.4:c.357+66dup , LRG_652t1:c.357+66dup NP_000445.1:n.357+66dup
NM_000454.5:c.357+66dup MANE Select NP_000445.1:n.357+66dup