Canonical Allele Identifier: CA637246968
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs763177154
gnomAD v2: 21-33036249-T-C
gnomAD v3: 21-31663936-T-C
gnomAD v4: 21-31663936-T-C
MyVariant Identifiers: chr21:g.33036249T>C (hg19) chr21:g.31663936T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663936T>C , CM000683.2:g.31663936T>C GRCh38
NC_000021.8:g.33036249T>C , CM000683.1:g.33036249T>C GRCh37
NC_000021.7:g.31958120T>C NCBI36
NG_008689.1:g.9315T>C , LRG_652:g.9315T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.169+50T>C MANE Select ENSP00000270142.7:n.169+50T>C
ENST00000270142.10:c.169+50T>C ENSP00000270142.6:n.169+50T>C
ENST00000389995.4:c.112+50T>C ENSP00000374645.4:n.112+50T>C
ENST00000470944.1:n.1097+50T>C
ENST00000476106.5:n.432+50T>C
NM_000454.4:c.169+50T>C , LRG_652t1:c.169+50T>C NP_000445.1:n.169+50T>C
NM_000454.5:c.169+50T>C MANE Select NP_000445.1:n.169+50T>C
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