Canonical Allele Identifier: CA2654222375

Gene: SOD1

Linked Data

• gnomAD v4: 21-31660188-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31660188C>T , CM000683.2:g.31660188C>T	GRCh38
NC_000021.8:g.33032501C>T , CM000683.1:g.33032501C>T	GRCh37
NC_000021.7:g.31954372C>T	NCBI36
NG_008689.1:g.5567C>T , LRG_652:g.5567C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.72+347C>T MANE Select	ENSP00000270142.7:n.72+347C>T
ENST00000270142.10:c.72+347C>T	ENSP00000270142.6:n.72+347C>T
ENST00000389995.4:c.15+404C>T	ENSP00000374645.4:n.15+404C>T
ENST00000470944.1:n.480C>T
ENST00000476106.5:n.149+347C>T
NM_000454.4:c.72+347C>T , LRG_652t1:c.72+347C>T	NP_000445.1:n.72+347C>T
NM_000454.5:c.72+347C>T MANE Select	NP_000445.1:n.72+347C>T