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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:
CA6465822
Gene: PDE6H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
307781
ClinVar RCV Id:
RCV000301976
RCV003391090
dbSNP Id:
rs114575851
ExAC:
12:15130918 G / C
gnomAD v2:
12-15130918-G-C
gnomAD v3:
12-14977984-G-C
gnomAD v4:
12-14977984-G-C
MyVariant Identifiers:
chr12:g.15130918G>C (hg19)
chr12:g.14977984G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.14977984G>C , CM000674.2:g.14977984G>C
GRCh38
NC_000012.11:g.15130918G>C , CM000674.1:g.15130918G>C
GRCh37
NC_000012.10:g.15022185G>C
NCBI36
NG_016859.1:g.9963G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000266395.3:c.-29G>C
MANE Select
ENSP00000266395.2:n.-29G>C
ENST00000266395.2:c.-29G>C
ENSP00000266395.2:n.-29G>C
NM_006205.2:c.-29G>C
NP_006196.1:n.-29G>C
XR_931376.1:n.175+11503C>G
XM_017019431.2:c.-29G>C
XP_016874920.1:n.-29G>C
XR_931376.2:n.389+11503C>G
NM_006205.3:c.-29G>C
MANE Select
NP_006196.1:n.-29G>C
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