Canonical Allele Identifier: CA359695205

Gene: GHR

Linked Data

• ClinVar Variation Id: 492773
• ClinVar RCV Id: RCV000581563 ; RCV002469211
• dbSNP Id: rs190314158
• gnomAD v4: 5-42695014-T-C
• MyVariant Identifiers: chr5:g.42695116T>C (hg19) ; chr5:g.42695014T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42695014T>C , CM000667.2:g.42695014T>C	GRCh38
NC_000005.9:g.42695116T>C , CM000667.1:g.42695116T>C	GRCh37
NC_000005.8:g.42730873T>C	NCBI36
NG_011688.1:g.276091T>C
NG_011688.2:g.276091T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230882.9:c.364T>C MANE Select	ENSP00000230882.4:p.Trp122Arg
ENST00000230882.8:c.364T>C	ENSP00000230882.4:p.Trp122Arg
ENST00000357703.6:c.298T>C	ENSP00000350335.3:p.Trp100Arg
ENST00000511135.5:c.234T>C	ENSP00000422333.1:p.Ser78=
ENST00000537449.5:c.364T>C	ENSP00000442206.2:p.Trp122Arg
ENST00000612382.4:c.364T>C	ENSP00000478332.1:p.Trp122Arg
ENST00000612626.4:c.364T>C	ENSP00000479846.1:p.Trp122Arg
ENST00000615111.4:c.364T>C	ENSP00000478291.1:p.Trp122Arg
ENST00000618088.4:c.364T>C	ENSP00000482373.1:p.Trp122Arg
ENST00000620156.4:c.385T>C	ENSP00000483403.1:p.Trp129Arg
ENST00000622294.2:c.364T>C	ENSP00000483926.1:p.Trp122Arg
NM_000163.4:c.364T>C	NP_000154.1:p.Trp122Arg
NM_001242399.2:c.385T>C	NP_001229328.1:p.Trp129Arg
NM_001242400.2:c.364T>C	NP_001229329.1:p.Trp122Arg
NM_001242401.3:c.364T>C	NP_001229330.1:p.Trp122Arg
NM_001242402.2:c.364T>C	NP_001229331.1:p.Trp122Arg
NM_001242403.2:c.364T>C	NP_001229332.1:p.Trp122Arg
NM_001242404.2:c.364T>C	NP_001229333.1:p.Trp122Arg
NM_001242405.2:c.364T>C	NP_001229334.1:p.Trp122Arg
NM_001242406.2:c.364T>C	NP_001229335.1:p.Trp122Arg
NM_001242460.1:c.298T>C	NP_001229389.1:p.Trp100Arg
NM_001242462.1:c.364T>C	NP_001229391.1:p.Trp122Arg
XM_011514031.1:c.319T>C	XP_011512333.1:p.Trp107Arg
NM_000163.5:c.364T>C MANE Select	NP_000154.1:p.Trp122Arg
NM_001242401.4:c.364T>C	NP_001229330.1:p.Trp122Arg
NM_001242403.3:c.364T>C	NP_001229332.1:p.Trp122Arg