Canonical Allele Identifier: CA637246975

Gene: SOD1

Linked Data

• dbSNP Id: rs1338305532
• gnomAD v2: 21-33036301-T-C
• gnomAD v3: 21-31663988-T-C
• gnomAD v4: 21-31663988-T-C
• MyVariant Identifiers: chr21:g.33036301T>C (hg19) ; chr21:g.31663988T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663988T>C , CM000683.2:g.31663988T>C	GRCh38
NC_000021.8:g.33036301T>C , CM000683.1:g.33036301T>C	GRCh37
NC_000021.7:g.31958172T>C	NCBI36
NG_008689.1:g.9367T>C , LRG_652:g.9367T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.169+102T>C MANE Select	ENSP00000270142.7:n.169+102T>C
ENST00000270142.10:c.169+102T>C	ENSP00000270142.6:n.169+102T>C
ENST00000389995.4:c.112+102T>C	ENSP00000374645.4:n.112+102T>C
ENST00000470944.1:n.1097+102T>C
ENST00000476106.5:n.432+102T>C
NM_000454.4:c.169+102T>C , LRG_652t1:c.169+102T>C	NP_000445.1:n.169+102T>C
NM_000454.5:c.169+102T>C MANE Select	NP_000445.1:n.169+102T>C