Canonical Allele Identifier: CA410036007
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1514873
ClinVar RCV Id: RCV002029618
dbSNP Id: rs1568807400
MyVariant Identifiers: chr21:g.33032125G>C (hg19) chr21:g.31659812G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659812G>C , CM000683.2:g.31659812G>C GRCh38
NC_000021.8:g.33032125G>C , CM000683.1:g.33032125G>C GRCh37
NC_000021.7:g.31953996G>C NCBI36
NG_008689.1:g.5191G>C , LRG_652:g.5191G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.43G>C MANE Select ENSP00000270142.7:p.Val15Leu
ENST00000270142.10:c.43G>C ENSP00000270142.6:p.Val15Leu
ENST00000389995.4:c.15+28G>C ENSP00000374645.4:n.15+28G>C
ENST00000470944.1:n.104G>C
ENST00000476106.5:n.120G>C
NM_000454.4:c.43G>C , LRG_652t1:c.43G>C NP_000445.1:p.Val15Leu
NM_000454.5:c.43G>C MANE Select NP_000445.1:p.Val15Leu
Search 100 bp 5'
Search 100 bp 3'