Canonical Allele Identifier: CA2817701936

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663889G>T , CM000683.2:g.31663889G>T	GRCh38
NC_000021.8:g.33036202G>T , CM000683.1:g.33036202G>T	GRCh37
NC_000021.7:g.31958073G>T	NCBI36
NG_008689.1:g.9268G>T , LRG_652:g.9268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.169+3G>T MANE Select	ENSP00000270142.7:n.169+3G>T
ENST00000270142.10:c.169+3G>T	ENSP00000270142.6:n.169+3G>T
ENST00000389995.4:c.112+3G>T	ENSP00000374645.4:n.112+3G>T
ENST00000470944.1:n.1097+3G>T
ENST00000476106.5:n.432+3G>T
NM_000454.4:c.169+3G>T , LRG_652t1:c.169+3G>T	NP_000445.1:n.169+3G>T
NM_000454.5:c.169+3G>T MANE Select	NP_000445.1:n.169+3G>T