Canonical Allele Identifier: CA2385876806

Gene: SOD1

Linked Data

• dbSNP Id: rs2049535676
• gnomAD v4: 21-31660159-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31660159G>T , CM000683.2:g.31660159G>T	GRCh38
NC_000021.8:g.33032472G>T , CM000683.1:g.33032472G>T	GRCh37
NC_000021.7:g.31954343G>T	NCBI36
NG_008689.1:g.5538G>T , LRG_652:g.5538G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.72+318G>T MANE Select	ENSP00000270142.7:n.72+318G>T
ENST00000270142.10:c.72+318G>T	ENSP00000270142.6:n.72+318G>T
ENST00000389995.4:c.15+375G>T	ENSP00000374645.4:n.15+375G>T
ENST00000470944.1:n.451G>T
ENST00000476106.5:n.149+318G>T
NM_000454.4:c.72+318G>T , LRG_652t1:c.72+318G>T	NP_000445.1:n.72+318G>T
NM_000454.5:c.72+318G>T MANE Select	NP_000445.1:n.72+318G>T