Canonical Allele Identifier: CA512113759
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2652586
ClinVar RCV Id: RCV003440533 RCV003629276 RCV003938981
dbSNP Id: rs1432013430
gnomAD v2: 21-33039628-T-C
gnomAD v4: 21-31667315-T-C
MyVariant Identifiers: chr21:g.33039628T>C (hg19) chr21:g.31667315T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667315T>C , CM000683.2:g.31667315T>C GRCh38
NC_000021.8:g.33039628T>C , CM000683.1:g.33039628T>C GRCh37
NC_000021.7:g.31961499T>C NCBI36
NG_008689.1:g.12694T>C , LRG_652:g.12694T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.297T>C MANE Select ENSP00000270142.7:p.Ser99=
ENST00000270142.10:c.297T>C ENSP00000270142.6:p.Ser99=
ENST00000389995.4:c.240T>C ENSP00000374645.4:p.Ser80=
ENST00000470944.1:n.1225T>C
ENST00000476106.5:n.560T>C
NM_000454.4:c.297T>C , LRG_652t1:c.297T>C NP_000445.1:p.Ser99=
NM_000454.5:c.297T>C MANE Select NP_000445.1:p.Ser99=
Search 100 bp 5'
Search 100 bp 3'