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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
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Canonical Allele Identifier:
CA639558304
Gene: SAMM50
HGNC
NCBI
Linked Data
dbSNP Id:
rs1265032209
gnomAD v2:
22-44394322-C-G
gnomAD v3:
22-43998442-C-G
gnomAD v4:
22-43998442-C-G
MyVariant Identifiers:
chr22:g.44394322C>G (hg19)
chr22:g.43998442C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.43998442C>G , CM000684.2:g.43998442C>G
GRCh38
NC_000022.10:g.44394322C>G , CM000684.1:g.44394322C>G
GRCh37
NC_000022.9:g.42725655C>G
NCBI36
NG_029057.1:g.48062C>G
NG_029743.1:g.4232C>G
NG_029057.2:g.48062C>G
NG_029743.2:g.4232C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000465768.1:n.79+8036C>G
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