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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:
CA1888953
Gene: MCM6
HGNC
NCBI
Linked Data
dbSNP Id:
rs763819330
ExAC:
2:136614302 T / C
gnomAD v2:
2-136614302-T-C
gnomAD v3:
2-135856732-T-C
gnomAD v4:
2-135856732-T-C
MyVariant Identifiers:
chr2:g.136614302T>C (hg19)
chr2:g.135856732T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.135856732T>C , CM000664.2:g.135856732T>C
GRCh38
NC_000002.11:g.136614302T>C , CM000664.1:g.136614302T>C
GRCh37
NC_000002.10:g.136330772T>C
NCBI36
NG_008104.2:g.3438A>G , LRG_338:g.3438A>G
NG_008958.1:g.24710A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000264156.3:c.1622A>G
MANE Select
ENSP00000264156.2:p.Asn541Ser
ENST00000264156.2:c.1622A>G
ENSP00000264156.2:p.Asn541Ser
ENST00000492091.1:n.182-5169A>G
NM_005915.5:c.1622A>G
NP_005906.2:p.Asn541Ser
NM_005915.6:c.1622A>G
MANE Select
NP_005906.2:p.Asn541Ser
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