Canonical Allele Identifier: CA512111383
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1387644283
MyVariant Identifiers: chr21:g.33032091G>C (hg19) chr21:g.31659778G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659778G>C , CM000683.2:g.31659778G>C GRCh38
NC_000021.8:g.33032091G>C , CM000683.1:g.33032091G>C GRCh37
NC_000021.7:g.31953962G>C NCBI36
NG_008689.1:g.5157G>C , LRG_652:g.5157G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.9G>C MANE Select ENSP00000270142.7:p.Thr3=
ENST00000270142.10:c.9G>C ENSP00000270142.6:p.Thr3=
ENST00000389995.4:c.9G>C ENSP00000374645.4:p.Thr3=
ENST00000470944.1:n.70G>C
ENST00000476106.5:n.86G>C
NM_000454.4:c.9G>C , LRG_652t1:c.9G>C NP_000445.1:p.Thr3=
NM_000454.5:c.9G>C MANE Select NP_000445.1:p.Thr3=
Search 100 bp 5'
Search 100 bp 3'