Canonical Allele Identifier: CA119804

Gene: GHR

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42699899A>C , CM000667.2:g.42699899A>C	GRCh38
NC_000005.9:g.42700001A>C , CM000667.1:g.42700001A>C	GRCh37
NC_000005.8:g.42735758A>C	NCBI36
NG_011688.1:g.280976A>C
NG_011688.2:g.280976A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230882.9:c.515A>C MANE Select	ENSP00000230882.4:p.Gln172Pro
ENST00000230882.8:c.515A>C	ENSP00000230882.4:p.Gln172Pro
ENST00000357703.6:c.449A>C	ENSP00000350335.3:p.Gln150Pro
ENST00000511135.5:c.*127A>C	ENSP00000422333.1:n.*127A>C
ENST00000537449.5:c.515A>C	ENSP00000442206.2:p.Gln172Pro
ENST00000612382.4:c.515A>C	ENSP00000478332.1:p.Gln172Pro
ENST00000612626.4:c.515A>C	ENSP00000479846.1:p.Gln172Pro
ENST00000615111.4:c.515A>C	ENSP00000478291.1:p.Gln172Pro
ENST00000618088.4:c.515A>C	ENSP00000482373.1:p.Gln172Pro
ENST00000620156.4:c.536A>C	ENSP00000483403.1:p.Gln179Pro
ENST00000622294.2:c.515A>C	ENSP00000483926.1:p.Gln172Pro
NM_000163.4:c.515A>C	NP_000154.1:p.Gln172Pro
NM_001242399.2:c.536A>C	NP_001229328.1:p.Gln179Pro
NM_001242400.2:c.515A>C	NP_001229329.1:p.Gln172Pro
NM_001242401.3:c.515A>C	NP_001229330.1:p.Gln172Pro
NM_001242402.2:c.515A>C	NP_001229331.1:p.Gln172Pro
NM_001242403.2:c.515A>C	NP_001229332.1:p.Gln172Pro
NM_001242404.2:c.515A>C	NP_001229333.1:p.Gln172Pro
NM_001242405.2:c.515A>C	NP_001229334.1:p.Gln172Pro
NM_001242406.2:c.515A>C	NP_001229335.1:p.Gln172Pro
NM_001242460.1:c.449A>C	NP_001229389.1:p.Gln150Pro
NM_001242462.1:c.515A>C	NP_001229391.1:p.Gln172Pro
XM_011514031.1:c.470A>C	XP_011512333.1:p.Gln157Pro
NM_000163.5:c.515A>C MANE Select	NP_000154.1:p.Gln172Pro
NM_001242401.4:c.515A>C	NP_001229330.1:p.Gln172Pro
NM_001242403.3:c.515A>C	NP_001229332.1:p.Gln172Pro