×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2385876503
Gene: SOD1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.31659721T= , CM000683.2:g.31659721T=
GRCh38
NC_000021.8:g.33032034T= , CM000683.1:g.33032034T=
GRCh37
NC_000021.7:g.31953905T=
NCBI36
NG_008689.1:g.5100T= , LRG_652:g.5100T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000270142.11:c.-49T=
MANE Select
ENSP00000270142.7:n.-49T=
ENST00000270142.10:c.-49T=
ENSP00000270142.6:n.-49T=
ENST00000389995.4:c.-49T=
ENSP00000374645.4:n.-49T=
ENST00000470944.1:n.13T=
ENST00000476106.5:n.29T=
NM_000454.4:c.-49T= , LRG_652t1:c.-49T=
NP_000445.1:n.-49T=
NM_000454.5:c.-49T=
MANE Select
NP_000445.1:n.-49T=
Search 100 bp 5'
Search 100 bp 3'