Canonical Allele Identifier: CA319334722
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs751861175
gnomAD v4: 21-31667423-T-A
MyVariant Identifiers: chr21:g.33039736T>A (hg19) chr21:g.31667423T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667423T>A , CM000683.2:g.31667423T>A GRCh38
NC_000021.8:g.33039736T>A , CM000683.1:g.33039736T>A GRCh37
NC_000021.7:g.31961607T>A NCBI36
NG_008689.1:g.12802T>A , LRG_652:g.12802T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+48T>A MANE Select ENSP00000270142.7:n.357+48T>A
ENST00000270142.10:c.357+48T>A ENSP00000270142.6:n.357+48T>A
ENST00000389995.4:c.300+48T>A ENSP00000374645.4:n.300+48T>A
ENST00000470944.1:n.1285+48T>A
NM_000454.4:c.357+48T>A , LRG_652t1:c.357+48T>A NP_000445.1:n.357+48T>A
NM_000454.5:c.357+48T>A MANE Select NP_000445.1:n.357+48T>A
Search 100 bp 5'
Search 100 bp 3'