Canonical Allele Identifier: CA2385878856

Gene: SOD1

Linked Data

• dbSNP Id: rs2049571518

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663994A>C , CM000683.2:g.31663994A>C	GRCh38
NC_000021.8:g.33036307A>C , CM000683.1:g.33036307A>C	GRCh37
NC_000021.7:g.31958178A>C	NCBI36
NG_008689.1:g.9373A>C , LRG_652:g.9373A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.169+108A>C MANE Select	ENSP00000270142.7:n.169+108A>C
ENST00000270142.10:c.169+108A>C	ENSP00000270142.6:n.169+108A>C
ENST00000389995.4:c.112+108A>C	ENSP00000374645.4:n.112+108A>C
ENST00000470944.1:n.1097+108A>C
ENST00000476106.5:n.432+108A>C
NM_000454.4:c.169+108A>C , LRG_652t1:c.169+108A>C	NP_000445.1:n.169+108A>C
NM_000454.5:c.169+108A>C MANE Select	NP_000445.1:n.169+108A>C