Canonical Allele Identifier: CA119798

Gene: GHR

Linked Data

• ClinVar Variation Id: 8636
• ClinVar RCV Id: RCV000009168
• dbSNP Id: rs121909361
• ExAC: 5:42689039 G / A
• gnomAD v2: 5-42689039-G-A
• gnomAD v3: 5-42688937-G-A
• gnomAD v4: 5-42688937-G-A
• MyVariant Identifiers: chr5:g.42689039G>A (hg19) ; chr5:g.42688937G>A (hg38)
• PubMed: PMID:7565946

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42688937G>A , CM000667.2:g.42688937G>A	GRCh38
NC_000005.9:g.42689039G>A , CM000667.1:g.42689039G>A	GRCh37
NC_000005.8:g.42724796G>A	NCBI36
NG_011688.1:g.270014G>A
NG_011688.2:g.270014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230882.9:c.184G>A MANE Select	ENSP00000230882.4:p.Glu62Lys
ENST00000230882.8:c.184G>A	ENSP00000230882.4:p.Glu62Lys
ENST00000357703.6:c.118G>A	ENSP00000350335.3:p.Glu40Lys
ENST00000511135.5:c.137-5980G>A	ENSP00000422333.1:n.137-5980G>A
ENST00000537449.5:c.184G>A	ENSP00000442206.2:p.Glu62Lys
ENST00000612382.4:c.184G>A	ENSP00000478332.1:p.Glu62Lys
ENST00000612626.4:c.184G>A	ENSP00000479846.1:p.Glu62Lys
ENST00000615111.4:c.184G>A	ENSP00000478291.1:p.Glu62Lys
ENST00000618088.4:c.184G>A	ENSP00000482373.1:p.Glu62Lys
ENST00000620156.4:c.205G>A	ENSP00000483403.1:p.Glu69Lys
ENST00000622294.2:c.184G>A	ENSP00000483926.1:p.Glu62Lys
NM_000163.4:c.184G>A	NP_000154.1:p.Glu62Lys
NM_001242399.2:c.205G>A	NP_001229328.1:p.Glu69Lys
NM_001242400.2:c.184G>A	NP_001229329.1:p.Glu62Lys
NM_001242401.3:c.184G>A	NP_001229330.1:p.Glu62Lys
NM_001242402.2:c.184G>A	NP_001229331.1:p.Glu62Lys
NM_001242403.2:c.184G>A	NP_001229332.1:p.Glu62Lys
NM_001242404.2:c.184G>A	NP_001229333.1:p.Glu62Lys
NM_001242405.2:c.184G>A	NP_001229334.1:p.Glu62Lys
NM_001242406.2:c.184G>A	NP_001229335.1:p.Glu62Lys
NM_001242460.1:c.118G>A	NP_001229389.1:p.Glu40Lys
NM_001242462.1:c.184G>A	NP_001229391.1:p.Glu62Lys
XM_011514031.1:c.139G>A	XP_011512333.1:p.Glu47Lys
NM_000163.5:c.184G>A MANE Select	NP_000154.1:p.Glu62Lys
NM_001242401.4:c.184G>A	NP_001229330.1:p.Glu62Lys
NM_001242403.3:c.184G>A	NP_001229332.1:p.Glu62Lys