Canonical Allele Identifier: CA2385880627
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667632A= , CM000683.2:g.31667632A= GRCh38
NC_000021.8:g.33039945A= , CM000683.1:g.33039945A= GRCh37
NC_000021.7:g.31961816A= NCBI36
NG_008689.1:g.13011A= , LRG_652:g.13011A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+257A= MANE Select ENSP00000270142.7:n.357+257A=
ENST00000270142.10:c.357+257A= ENSP00000270142.6:n.357+257A=
ENST00000389995.4:c.300+257A= ENSP00000374645.4:n.300+257A=
ENST00000470944.1:n.1285+257A=
NM_000454.4:c.357+257A= , LRG_652t1:c.357+257A= NP_000445.1:n.357+257A=
NM_000454.5:c.357+257A= MANE Select NP_000445.1:n.357+257A=