Canonical Allele Identifier: CA2385881069
Community Standard Title: NM_000454.5(SOD1):c.404G= (p.Ser135=)
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31668517G= , CM000683.2:g.31668517G= GRCh38
NC_000021.8:g.33040830G= , CM000683.1:g.33040830G= GRCh37
NC_000021.7:g.31962701G= NCBI36
NG_008689.1:g.13896G= , LRG_652:g.13896G=

Transcript Alleles

HGVS Amino-acid Change
NM_000454.5:c.404G= MANE Select NP_000445.1:p.Ser135=
ENST00000270142.11:c.404G= MANE Select ENSP00000270142.7:p.Ser135=
NM_000454.4:c.404G= , LRG_652t1:c.404G= NP_000445.1:p.Ser135=
ENST00000270142.10:c.404G= ENSP00000270142.6:p.Ser135=
ENST00000389995.4:c.347G= ENSP00000374645.4:p.Ser116=
ENST00000470944.1:n.1332G=