Canonical Allele Identifier: CA202257
Gene: GHRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 36273
ClinVar RCV Id: RCV000029936 RCV000177091 RCV000328423 RCV001596943
dbSNP Id: rs4988496
ExAC: 7:31008686 G / A
gnomAD v2: 7-31008686-G-A
gnomAD v3: 7-30969071-G-A
gnomAD v4: 7-30969071-G-A
MyVariant Identifiers: chr7:g.31008686G>A (hg19) chr7:g.30969071G>A (hg38)
PubMed: PMID:10944436 PMID:21044116 PMID:22489751
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30969071G>A , CM000669.2:g.30969071G>A GRCh38
NC_000007.13:g.31008686G>A , CM000669.1:g.31008686G>A GRCh37
NC_000007.12:g.30975211G>A NCBI36
NG_021416.1:g.10051G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326139.7:c.169G>A MANE Select ENSP00000320180.2:p.Ala57Thr
ENST00000326139.6:c.169G>A ENSP00000320180.2:p.Ala57Thr
NM_000823.3:c.169G>A NP_000814.2:p.Ala57Thr
NM_000823.4:c.169G>A MANE Select NP_000814.2:p.Ala57Thr
Search 100 bp 5'
Search 100 bp 3'