Canonical Allele Identifier: CA2385880088
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31666496G= , CM000683.2:g.31666496G= GRCh38
NC_000021.8:g.33038809G= , CM000683.1:g.33038809G= GRCh37
NC_000021.7:g.31960680G= NCBI36
NG_008689.1:g.11875G= , LRG_652:g.11875G=

Transcript Alleles

HGVS Amino-acid Change
NM_000454.5:c.217G= MANE Select NP_000445.1:p.Gly73=
ENST00000270142.11:c.217G= MANE Select ENSP00000270142.7:p.Gly73=
NM_000454.4:c.217G= , LRG_652t1:c.217G= NP_000445.1:p.Gly73=
ENST00000270142.10:c.217G= ENSP00000270142.6:p.Gly73=
ENST00000389995.4:c.160G= ENSP00000374645.4:p.Gly54=
ENST00000470944.1:n.1145G=
ENST00000476106.5:n.480G=