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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:
CA156111458
Gene: GHRHR
HGNC
NCBI
Linked Data
dbSNP Id:
rs948242768
gnomAD v2:
7-31008612-C-T
gnomAD v3:
7-30968997-C-T
gnomAD v4:
7-30968997-C-T
MyVariant Identifiers:
chr7:g.31008612C>T (hg19)
chr7:g.30968997C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.30968997C>T , CM000669.2:g.30968997C>T
GRCh38
NC_000007.13:g.31008612C>T , CM000669.1:g.31008612C>T
GRCh37
NC_000007.12:g.30975137C>T
NCBI36
NG_021416.1:g.9977C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000326139.7:c.160+61C>T
MANE Select
ENSP00000320180.2:n.160+61C>T
ENST00000326139.6:c.160+61C>T
ENSP00000320180.2:n.160+61C>T
NM_000823.3:c.160+61C>T
NP_000814.2:n.160+61C>T
NM_000823.4:c.160+61C>T
MANE Select
NP_000814.2:n.160+61C>T
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