Canonical Allele Identifier: CA410036124

Gene: SOD1

Linked Data

• MyVariant Identifiers: chr21:g.33032156C>G (hg19) ; chr21:g.31659843C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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