Canonical Allele Identifier: CA637247367
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1302716095
gnomAD v2: 21-33039962-A-C
gnomAD v3: 21-31667649-A-C
gnomAD v4: 21-31667649-A-C
MyVariant Identifiers: chr21:g.33039962A>C (hg19) chr21:g.31667649A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667649A>C , CM000683.2:g.31667649A>C GRCh38
NC_000021.8:g.33039962A>C , CM000683.1:g.33039962A>C GRCh37
NC_000021.7:g.31961833A>C NCBI36
NG_008689.1:g.13028A>C , LRG_652:g.13028A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+274A>C MANE Select ENSP00000270142.7:n.357+274A>C
ENST00000270142.10:c.357+274A>C ENSP00000270142.6:n.357+274A>C
ENST00000389995.4:c.300+274A>C ENSP00000374645.4:n.300+274A>C
ENST00000470944.1:n.1285+274A>C
NM_000454.4:c.357+274A>C , LRG_652t1:c.357+274A>C NP_000445.1:n.357+274A>C
NM_000454.5:c.357+274A>C MANE Select NP_000445.1:n.357+274A>C
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