Canonical Allele Identifier: CA410036125

Gene: SOD1

Linked Data

• dbSNP Id: rs879164769
• gnomAD v4: 21-31659843-C-T
• MyVariant Identifiers: chr21:g.33032156C>T (hg19) ; chr21:g.31659843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659843C>T , CM000683.2:g.31659843C>T	GRCh38
NC_000021.8:g.33032156C>T , CM000683.1:g.33032156C>T	GRCh37
NC_000021.7:g.31954027C>T	NCBI36
NG_008689.1:g.5222C>T , LRG_652:g.5222C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000270142.11:c.72+2C>T MANE Select	ENSP00000270142.7:n.72+2C>T
ENST00000270142.10:c.72+2C>T	ENSP00000270142.6:n.72+2C>T
ENST00000389995.4:c.15+59C>T	ENSP00000374645.4:n.15+59C>T
ENST00000470944.1:n.135C>T
ENST00000476106.5:n.149+2C>T
NM_000454.4:c.72+2C>T , LRG_652t1:c.72+2C>T	NP_000445.1:n.72+2C>T
NM_000454.5:c.72+2C>T MANE Select	NP_000445.1:n.72+2C>T