ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA3712394
Gene: HCP5
HGNC
NCBI
Linked Data
dbSNP Id:
rs188578006
ExAC:
6:31431509 A / T
gnomAD v2:
6-31431509-A-T
gnomAD v3:
6-31463732-A-T
gnomAD v4:
6-31463732-A-T
MyVariant Identifiers:
chr6:g.31431509A>T (hg19)
chr6:g.31463732A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31463732A>T , CM000668.2:g.31463732A>T
GRCh38
NC_000006.11:g.31431509A>T , CM000668.1:g.31431509A>T
GRCh37
NC_000006.10:g.31539488A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040662.1:n.462A>T
Search 100 bp 5'
Search 100 bp 3'