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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:
CA399562418
Gene: HCRT
HGNC
NCBI
Linked Data
dbSNP Id:
rs2079924123
MyVariant Identifiers:
chr17:g.40336522G>C (hg19)
chr17:g.42184504G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42184504G>C , CM000679.2:g.42184504G>C
GRCh38
NC_000017.10:g.40336522G>C , CM000679.1:g.40336522G>C
GRCh37
NC_000017.9:g.37590048G>C
NCBI36
NG_011448.1:g.5949C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000293330.1:c.46C>G
MANE Select
ENSP00000293330.1:p.Leu16Val
NM_001524.1:c.46C>G
MANE Select
NP_001515.1:p.Leu16Val
Search 100 bp 5'
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