Canonical Allele Identifier: CA443840780
Gene: GHR HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.42695100A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.42694998A>G , CM000667.2:g.42694998A>G GRCh38
NC_000005.9:g.42695100A>G , CM000667.1:g.42695100A>G GRCh37
NC_000005.8:g.42730857A>G NCBI36
NG_011688.1:g.276075A>G
NG_011688.2:g.276075A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000230882.9:c.348A>G MANE Select ENSP00000230882.4:p.Ser116=
ENST00000230882.8:c.348A>G ENSP00000230882.4:p.Ser116=
ENST00000357703.6:c.282A>G ENSP00000350335.3:p.Ser94=
ENST00000511135.5:c.218A>G ENSP00000422333.1:p.His73Arg
ENST00000537449.5:c.348A>G ENSP00000442206.2:p.Ser116=
ENST00000612382.4:c.348A>G ENSP00000478332.1:p.Ser116=
ENST00000612626.4:c.348A>G ENSP00000479846.1:p.Ser116=
ENST00000615111.4:c.348A>G ENSP00000478291.1:p.Ser116=
ENST00000618088.4:c.348A>G ENSP00000482373.1:p.Ser116=
ENST00000620156.4:c.369A>G ENSP00000483403.1:p.Ser123=
ENST00000622294.2:c.348A>G ENSP00000483926.1:p.Ser116=
NM_000163.4:c.348A>G NP_000154.1:p.Ser116=
NM_001242399.2:c.369A>G NP_001229328.1:p.Ser123=
NM_001242400.2:c.348A>G NP_001229329.1:p.Ser116=
NM_001242401.3:c.348A>G NP_001229330.1:p.Ser116=
NM_001242402.2:c.348A>G NP_001229331.1:p.Ser116=
NM_001242403.2:c.348A>G NP_001229332.1:p.Ser116=
NM_001242404.2:c.348A>G NP_001229333.1:p.Ser116=
NM_001242405.2:c.348A>G NP_001229334.1:p.Ser116=
NM_001242406.2:c.348A>G NP_001229335.1:p.Ser116=
NM_001242460.1:c.282A>G NP_001229389.1:p.Ser94=
NM_001242462.1:c.348A>G NP_001229391.1:p.Ser116=
XM_011514031.1:c.303A>G XP_011512333.1:p.Ser101=
NM_000163.5:c.348A>G MANE Select NP_000154.1:p.Ser116=
NM_001242401.4:c.348A>G NP_001229330.1:p.Ser116=
NM_001242403.3:c.348A>G NP_001229332.1:p.Ser116=