Canonical Allele Identifier: CA2654221942
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659670T>C , CM000683.2:g.31659670T>C GRCh38
NC_000021.8:g.33031983T>C , CM000683.1:g.33031983T>C GRCh37
NC_000021.7:g.31953854T>C NCBI36
NG_008689.1:g.5049T>C , LRG_652:g.5049T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.10:c.-100T>C ENSP00000270142.6:n.-100T>C
ENST00000389995.4:c.-100T>C ENSP00000374645.4:n.-100T>C
NM_000454.4:c.-100T>C , LRG_652t1:c.-100T>C NP_000445.1:n.-100T>C