Canonical Allele Identifier: CA410037384
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667263T>C , CM000683.2:g.31667263T>C GRCh38
NC_000021.8:g.33039576T>C , CM000683.1:g.33039576T>C GRCh37
NC_000021.7:g.31961447T>C NCBI36
NG_008689.1:g.12642T>C , LRG_652:g.12642T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.245T>C MANE Select ENSP00000270142.7:p.Val82Ala
ENST00000270142.10:c.245T>C ENSP00000270142.6:p.Val82Ala
ENST00000389995.4:c.188T>C ENSP00000374645.4:p.Val63Ala
ENST00000470944.1:n.1173T>C
ENST00000476106.5:n.508T>C
NM_000454.4:c.245T>C , LRG_652t1:c.245T>C NP_000445.1:p.Val82Ala
NM_000454.5:c.245T>C MANE Select NP_000445.1:p.Val82Ala