Canonical Allele Identifier: CA1021813872
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs2049608092
gnomAD v3: 21-31667654-G-A
gnomAD v4: 21-31667654-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667654G>A , CM000683.2:g.31667654G>A GRCh38
NC_000021.8:g.33039967G>A , CM000683.1:g.33039967G>A GRCh37
NC_000021.7:g.31961838G>A NCBI36
NG_008689.1:g.13033G>A , LRG_652:g.13033G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+279G>A MANE Select ENSP00000270142.7:n.357+279G>A
ENST00000270142.10:c.357+279G>A ENSP00000270142.6:n.357+279G>A
ENST00000389995.4:c.300+279G>A ENSP00000374645.4:n.300+279G>A
ENST00000470944.1:n.1285+279G>A
NM_000454.4:c.357+279G>A , LRG_652t1:c.357+279G>A NP_000445.1:n.357+279G>A
NM_000454.5:c.357+279G>A MANE Select NP_000445.1:n.357+279G>A
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