Canonical Allele Identifier: CA410037674
Gene: SOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.31668493T>C
GRCh37 chr21:g.33040806T>C
Revel Score:
ENST00000270142 (MANE Select) 0.987
ENST00000389995 0.987
ClinVar RCV:
RCV003064624
ClinVar Variation:
2138379
dbSNP:
121912454
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31668493T>C , CM000683.2:g.31668493T>C GRCh38
NC_000021.8:g.33040806T>C , CM000683.1:g.33040806T>C GRCh37
NC_000021.7:g.31962677T>C NCBI36
NG_008689.1:g.13872T>C , LRG_652:g.13872T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.380T>C MANE Select ENSP00000270142.7:p.Leu127Ser
ENST00000270142.10:c.380T>C ENSP00000270142.6:p.Leu127Ser
ENST00000389995.4:c.323T>C ENSP00000374645.4:p.Leu108Ser
ENST00000470944.1:n.1308T>C
NM_000454.4:c.380T>C , LRG_652t1:c.380T>C NP_000445.1:p.Leu127Ser
NM_000454.5:c.380T>C MANE Select NP_000445.1:p.Leu127Ser
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