Canonical Allele Identifier: CA2385880408
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667279T= , CM000683.2:g.31667279T= GRCh38
NC_000021.8:g.33039592T= , CM000683.1:g.33039592T= GRCh37
NC_000021.7:g.31961463T= NCBI36
NG_008689.1:g.12658T= , LRG_652:g.12658T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.261T= MANE Select ENSP00000270142.7:p.Asn87=
ENST00000270142.10:c.261T= ENSP00000270142.6:p.Asn87=
ENST00000389995.4:c.204T= ENSP00000374645.4:p.Asn68=
ENST00000470944.1:n.1189T=
ENST00000476106.5:n.524T=
NM_000454.4:c.261T= , LRG_652t1:c.261T= NP_000445.1:p.Asn87=
NM_000454.5:c.261T= MANE Select NP_000445.1:p.Asn87=