Canonical Allele Identifier: CA126137
Gene: GHRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 15993
ClinVar RCV Id: RCV000017364
dbSNP Id: rs121918120
gnomAD v2: 7-31013667-C-A
gnomAD v3: 7-30974052-C-A
gnomAD v4: 7-30974052-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30974052C>A , CM000669.2:g.30974052C>A GRCh38
NC_000007.13:g.31013667C>A , CM000669.1:g.31013667C>A GRCh37
NC_000007.12:g.30980192C>A NCBI36
NG_021416.1:g.15032C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326139.7:c.665C>A MANE Select ENSP00000320180.2:p.Ala222Glu
ENST00000326139.6:c.665C>A ENSP00000320180.2:p.Ala222Glu
ENST00000337750.9:c.175-377C>A ENSP00000338184.4:n.175-377C>A
ENST00000396227.6:c.406-377C>A ENSP00000379529.2:n.406-377C>A
ENST00000409316.5:c.51-377C>A ENSP00000386602.1:n.51-377C>A
ENST00000409904.7:c.473C>A ENSP00000387113.3:p.Ala158Glu
ENST00000461390.1:n.133C>A
ENST00000461424.5:n.241C>A
ENST00000489974.5:n.438C>A
ENST00000611037.1:c.111C>A ENSP00000480159.1:p.Gly37=
NM_000823.3:c.665C>A NP_000814.2:p.Ala222Glu
XM_011515263.1:c.473C>A XP_011513565.1:p.Ala158Glu
NM_000823.4:c.665C>A MANE Select NP_000814.2:p.Ala222Glu