Canonical Allele Identifier: CA9998832
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs771875500
ExAC: 21:33032033 G / T
gnomAD v2: 21-33032033-G-T
gnomAD v3: 21-31659720-G-T
gnomAD v4: 21-31659720-G-T
MyVariant Identifiers: chr21:g.33032033G>T (hg19) chr21:g.31659720G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659720G>T , CM000683.2:g.31659720G>T GRCh38
NC_000021.8:g.33032033G>T , CM000683.1:g.33032033G>T GRCh37
NC_000021.7:g.31953904G>T NCBI36
NG_008689.1:g.5099G>T , LRG_652:g.5099G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.-50G>T MANE Select ENSP00000270142.7:n.-50G>T
ENST00000270142.10:c.-50G>T ENSP00000270142.6:n.-50G>T
ENST00000389995.4:c.-50G>T ENSP00000374645.4:n.-50G>T
ENST00000470944.1:n.12G>T
ENST00000476106.5:n.28G>T
NM_000454.4:c.-50G>T , LRG_652t1:c.-50G>T NP_000445.1:n.-50G>T
NM_000454.5:c.-50G>T MANE Select NP_000445.1:n.-50G>T
Search 100 bp 5'
Search 100 bp 3'