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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:
CA399562242
Gene: HCRT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1178095975
gnomAD v2:
17-40336432-A-T
gnomAD v4:
17-42184414-A-T
MyVariant Identifiers:
chr17:g.40336432A>T (hg19)
chr17:g.42184414A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42184414A>T , CM000679.2:g.42184414A>T
GRCh38
NC_000017.10:g.40336432A>T , CM000679.1:g.40336432A>T
GRCh37
NC_000017.9:g.37589958A>T
NCBI36
NG_011448.1:g.6039T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000293330.1:c.136T>A
MANE Select
ENSP00000293330.1:p.Ser46Thr
NM_001524.1:c.136T>A
MANE Select
NP_001515.1:p.Ser46Thr
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