Canonical Allele Identifier: CA2385876507
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1420299909
gnomAD v4: 21-31659723-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659723T>C , CM000683.2:g.31659723T>C GRCh38
NC_000021.8:g.33032036T>C , CM000683.1:g.33032036T>C GRCh37
NC_000021.7:g.31953907T>C NCBI36
NG_008689.1:g.5102T>C , LRG_652:g.5102T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.-47T>C MANE Select ENSP00000270142.7:n.-47T>C
ENST00000270142.10:c.-47T>C ENSP00000270142.6:n.-47T>C
ENST00000389995.4:c.-47T>C ENSP00000374645.4:n.-47T>C
ENST00000470944.1:n.15T>C
ENST00000476106.5:n.31T>C
NM_000454.4:c.-47T>C , LRG_652t1:c.-47T>C NP_000445.1:n.-47T>C
NM_000454.5:c.-47T>C MANE Select NP_000445.1:n.-47T>C
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