Canonical Allele Identifier: CA2385878766
Community Standard Title: NM_000454.5(SOD1):c.112G= (p.Gly38=)
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663829G= , CM000683.2:g.31663829G= GRCh38
NC_000021.8:g.33036142G= , CM000683.1:g.33036142G= GRCh37
NC_000021.7:g.31958013G= NCBI36
NG_008689.1:g.9208G= , LRG_652:g.9208G=

Transcript Alleles

HGVS Amino-acid Change
NM_000454.5:c.112G= MANE Select NP_000445.1:p.Gly38=
ENST00000270142.11:c.112G= MANE Select ENSP00000270142.7:p.Gly38=
NM_000454.4:c.112G= , LRG_652t1:c.112G= NP_000445.1:p.Gly38=
ENST00000270142.10:c.112G= ENSP00000270142.6:p.Gly38=
ENST00000389995.4:c.55G= ENSP00000374645.4:p.Gly19=
ENST00000470944.1:n.1040G=
ENST00000476106.5:n.375G=