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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:
CA130360
Gene: DHTKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39564
ClinVar RCV Id:
RCV000032764
RCV000199635
RCV000238689
RCV000791040
dbSNP Id:
rs117225135
ExAC:
10:12154929 G / A
gnomAD v2:
10-12154929-G-A
gnomAD v3:
10-12112930-G-A
gnomAD v4:
10-12112930-G-A
MyVariant Identifiers:
chr10:g.12154929G>A (hg19)
chr10:g.12112930G>A (hg38)
PubMed:
PMID:23141293
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.12112930G>A , CM000672.2:g.12112930G>A
GRCh38
NC_000010.10:g.12154929G>A , CM000672.1:g.12154929G>A
GRCh37
NC_000010.9:g.12194935G>A
NCBI36
NG_033248.1:g.49014G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000263035.9:c.2185G>A
MANE Select
ENSP00000263035.4:p.Gly729Arg
ENST00000263035.8:c.2185G>A
ENSP00000263035.4:p.Gly729Arg
ENST00000448829.1:c.688G>A
NM_018706.6:c.2185G>A
NP_061176.3:p.Gly729Arg
NM_018706.7:c.2185G>A
MANE Select
NP_061176.4:p.Gly729Arg
Search 100 bp 5'
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