Canonical Allele Identifier: CA1542294336
Community Standard Title: NM_000163.5(GHR):c.594A= (p.Glu198=)
Gene: GHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.42699978A= , CM000667.2:g.42699978A= GRCh38
NC_000005.9:g.42700080A= , CM000667.1:g.42700080A= GRCh37
NC_000005.8:g.42735837A= NCBI36
NG_011688.1:g.281055A=
NG_011688.2:g.281055A=

Transcript Alleles

HGVS Amino-acid Change
NM_000163.5:c.594A= MANE Select NP_000154.1:p.Glu198=
ENST00000230882.9:c.594A= MANE Select ENSP00000230882.4:p.Glu198=
NM_000163.4:c.594A= NP_000154.1:p.Glu198=
NM_001242399.2:c.615A= NP_001229328.1:p.Glu205=
NM_001242400.2:c.594A= NP_001229329.1:p.Glu198=
NM_001242401.3:c.594A= NP_001229330.1:p.Glu198=
NM_001242401.4:c.594A= NP_001229330.1:p.Glu198=
NM_001242402.2:c.594A= NP_001229331.1:p.Glu198=
NM_001242403.2:c.594A= NP_001229332.1:p.Glu198=
NM_001242403.3:c.594A= NP_001229332.1:p.Glu198=
NM_001242404.2:c.594A= NP_001229333.1:p.Glu198=
NM_001242405.2:c.594A= NP_001229334.1:p.Glu198=
NM_001242406.2:c.594A= NP_001229335.1:p.Glu198=
NM_001242460.1:c.528A= NP_001229389.1:p.Glu176=
NM_001242462.1:c.594A= NP_001229391.1:p.Glu198=
ENST00000230882.8:c.594A= ENSP00000230882.4:p.Glu198=
ENST00000357703.6:c.528A= ENSP00000350335.3:p.Glu176=
ENST00000511135.5:c.*206A= ENSP00000422333.1:n.*206A=
ENST00000537449.5:c.594A= ENSP00000442206.2:p.Glu198=
ENST00000612382.4:c.594A= ENSP00000478332.1:p.Glu198=
ENST00000612626.4:c.594A= ENSP00000479846.1:p.Glu198=
ENST00000615111.4:c.594A= ENSP00000478291.1:p.Glu198=
ENST00000618088.4:c.594A= ENSP00000482373.1:p.Glu198=
ENST00000620156.4:c.615A= ENSP00000483403.1:p.Glu205=
ENST00000622294.2:c.594A= ENSP00000483926.1:p.Glu198=
XM_011514031.1:c.549A= XP_011512333.1:p.Glu183=