Canonical Allele Identifier: CA410037598
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667368C>T , CM000683.2:g.31667368C>T GRCh38
NC_000021.8:g.33039681C>T , CM000683.1:g.33039681C>T GRCh37
NC_000021.7:g.31961552C>T NCBI36
NG_008689.1:g.12747C>T , LRG_652:g.12747C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.350C>T MANE Select ENSP00000270142.7:p.Thr117Ile
ENST00000270142.10:c.350C>T ENSP00000270142.6:p.Thr117Ile
ENST00000389995.4:c.293C>T ENSP00000374645.4:p.Thr98Ile
ENST00000470944.1:n.1278C>T
NM_000454.4:c.350C>T , LRG_652t1:c.350C>T NP_000445.1:p.Thr117Ile
NM_000454.5:c.350C>T MANE Select NP_000445.1:p.Thr117Ile