Canonical Allele Identifier: CA245069

Gene: GHR

Linked Data

• ClinVar Variation Id: 197112
• ClinVar RCV Id: RCV000247786 ; RCV000724729
• dbSNP Id: rs140501920
• ExAC: 5:42689050 A / G
• gnomAD v2: 5-42689050-A-G
• gnomAD v3: 5-42688948-A-G
• gnomAD v4: 5-42688948-A-G
• MyVariant Identifiers: chr5:g.42689050A>G (hg19) ; chr5:g.42688948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42688948A>G , CM000667.2:g.42688948A>G	GRCh38
NC_000005.9:g.42689050A>G , CM000667.1:g.42689050A>G	GRCh37
NC_000005.8:g.42724807A>G	NCBI36
NG_011688.1:g.270025A>G
NG_011688.2:g.270025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230882.9:c.195A>G MANE Select	ENSP00000230882.4:p.Ser65=
ENST00000230882.8:c.195A>G	ENSP00000230882.4:p.Ser65=
ENST00000357703.6:c.129A>G	ENSP00000350335.3:p.Ser43=
ENST00000511135.5:c.137-5969A>G	ENSP00000422333.1:n.137-5969A>G
ENST00000537449.5:c.195A>G	ENSP00000442206.2:p.Ser65=
ENST00000612382.4:c.195A>G	ENSP00000478332.1:p.Ser65=
ENST00000612626.4:c.195A>G	ENSP00000479846.1:p.Ser65=
ENST00000615111.4:c.195A>G	ENSP00000478291.1:p.Ser65=
ENST00000618088.4:c.195A>G	ENSP00000482373.1:p.Ser65=
ENST00000620156.4:c.216A>G	ENSP00000483403.1:p.Ser72=
ENST00000622294.2:c.195A>G	ENSP00000483926.1:p.Ser65=
NM_000163.4:c.195A>G	NP_000154.1:p.Ser65=
NM_001242399.2:c.216A>G	NP_001229328.1:p.Ser72=
NM_001242400.2:c.195A>G	NP_001229329.1:p.Ser65=
NM_001242401.3:c.195A>G	NP_001229330.1:p.Ser65=
NM_001242402.2:c.195A>G	NP_001229331.1:p.Ser65=
NM_001242403.2:c.195A>G	NP_001229332.1:p.Ser65=
NM_001242404.2:c.195A>G	NP_001229333.1:p.Ser65=
NM_001242405.2:c.195A>G	NP_001229334.1:p.Ser65=
NM_001242406.2:c.195A>G	NP_001229335.1:p.Ser65=
NM_001242460.1:c.129A>G	NP_001229389.1:p.Ser43=
NM_001242462.1:c.195A>G	NP_001229391.1:p.Ser65=
XM_011514031.1:c.150A>G	XP_011512333.1:p.Ser50=
NM_000163.5:c.195A>G MANE Select	NP_000154.1:p.Ser65=
NM_001242401.4:c.195A>G	NP_001229330.1:p.Ser65=
NM_001242403.3:c.195A>G	NP_001229332.1:p.Ser65=