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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:
CA118704
Gene: HCRT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7303
ClinVar RCV Id:
RCV000007726
dbSNP Id:
rs104894574
MyVariant Identifiers:
chr17:g.40336521A>C (hg19)
chr17:g.42184503A>C (hg38)
PubMed:
PMID:10973318
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42184503A>C , CM000679.2:g.42184503A>C
GRCh38
NC_000017.10:g.40336521A>C , CM000679.1:g.40336521A>C
GRCh37
NC_000017.9:g.37590047A>C
NCBI36
NG_011448.1:g.5950T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000293330.1:c.47T>G
MANE Select
ENSP00000293330.1:p.Leu16Arg
NM_001524.1:c.47T>G
MANE Select
NP_001515.1:p.Leu16Arg
Search 100 bp 5'
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