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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:
CA376013412
Gene: DHTKD1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.12154933A>C (hg19)
chr10:g.12112934A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.12112934A>C , CM000672.2:g.12112934A>C
GRCh38
NC_000010.10:g.12154933A>C , CM000672.1:g.12154933A>C
GRCh37
NC_000010.9:g.12194939A>C
NCBI36
NG_033248.1:g.49018A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000263035.9:c.2189A>C
MANE Select
ENSP00000263035.4:p.Asp730Ala
ENST00000263035.8:c.2189A>C
ENSP00000263035.4:p.Asp730Ala
ENST00000448829.1:c.692A>C
NM_018706.6:c.2189A>C
NP_061176.3:p.Asp730Ala
NM_018706.7:c.2189A>C
MANE Select
NP_061176.4:p.Asp730Ala
Search 100 bp 5'
Search 100 bp 3'