Canonical Allele Identifier: CA748618426
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1423429617
gnomAD v3: 21-31659726-G-C
gnomAD v4: 21-31659726-G-C
MyVariant Identifiers: chr21:g.33032039G>C (hg19) chr21:g.31659726G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659726G>C , CM000683.2:g.31659726G>C GRCh38
NC_000021.8:g.33032039G>C , CM000683.1:g.33032039G>C GRCh37
NC_000021.7:g.31953910G>C NCBI36
NG_008689.1:g.5105G>C , LRG_652:g.5105G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.-44G>C MANE Select ENSP00000270142.7:n.-44G>C
ENST00000270142.10:c.-44G>C ENSP00000270142.6:n.-44G>C
ENST00000389995.4:c.-44G>C ENSP00000374645.4:n.-44G>C
ENST00000470944.1:n.18G>C
ENST00000476106.5:n.34G>C
NM_000454.4:c.-44G>C , LRG_652t1:c.-44G>C NP_000445.1:n.-44G>C
NM_000454.5:c.-44G>C MANE Select NP_000445.1:n.-44G>C
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