Canonical Allele Identifier: CA319334860
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs560724749
gnomAD v3: 21-31667631-G-T
gnomAD v4: 21-31667631-G-T
MyVariant Identifiers: chr21:g.33039944G>T (hg19) chr21:g.31667631G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667631G>T , CM000683.2:g.31667631G>T GRCh38
NC_000021.8:g.33039944G>T , CM000683.1:g.33039944G>T GRCh37
NC_000021.7:g.31961815G>T NCBI36
NG_008689.1:g.13010G>T , LRG_652:g.13010G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+256G>T MANE Select ENSP00000270142.7:n.357+256G>T
ENST00000270142.10:c.357+256G>T ENSP00000270142.6:n.357+256G>T
ENST00000389995.4:c.300+256G>T ENSP00000374645.4:n.300+256G>T
ENST00000470944.1:n.1285+256G>T
NM_000454.4:c.357+256G>T , LRG_652t1:c.357+256G>T NP_000445.1:n.357+256G>T
NM_000454.5:c.357+256G>T MANE Select NP_000445.1:n.357+256G>T
Search 100 bp 5'
Search 100 bp 3'