Canonical Allele Identifier: CA410037496
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667319G>C , CM000683.2:g.31667319G>C GRCh38
NC_000021.8:g.33039632G>C , CM000683.1:g.33039632G>C GRCh37
NC_000021.7:g.31961503G>C NCBI36
NG_008689.1:g.12698G>C , LRG_652:g.12698G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.301G>C MANE Select ENSP00000270142.7:p.Glu101Gln
ENST00000270142.10:c.301G>C ENSP00000270142.6:p.Glu101Gln
ENST00000389995.4:c.244G>C ENSP00000374645.4:p.Glu82Gln
ENST00000470944.1:n.1229G>C
ENST00000476106.5:n.564G>C
NM_000454.4:c.301G>C , LRG_652t1:c.301G>C NP_000445.1:p.Glu101Gln
NM_000454.5:c.301G>C MANE Select NP_000445.1:p.Glu101Gln