Canonical Allele Identifier: CA119802
Gene: GHR HGNC NCBI

Linked Data

ClinVar Variation Id: 8639
dbSNP Id: rs121909363
gnomAD v2: 5-42711393-C-T
gnomAD v3: 5-42711291-C-T
gnomAD v4: 5-42711291-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.42711291C>T , CM000667.2:g.42711291C>T GRCh38
NC_000005.9:g.42711393C>T , CM000667.1:g.42711393C>T GRCh37
NC_000005.8:g.42747150C>T NCBI36
NG_011688.1:g.292368C>T
NG_011688.2:g.292368C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000230882.9:c.703C>T MANE Select ENSP00000230882.4:p.Arg235Ter
ENST00000230882.8:c.703C>T ENSP00000230882.4:p.Arg235Ter
ENST00000357703.6:c.637C>T ENSP00000350335.3:p.Arg213Ter
ENST00000511135.5:c.*315C>T ENSP00000422333.1:n.*315C>T
ENST00000537449.5:c.703C>T ENSP00000442206.2:p.Arg235Ter
ENST00000612382.4:c.703C>T ENSP00000478332.1:p.Arg235Ter
ENST00000612626.4:c.703C>T ENSP00000479846.1:p.Arg235Ter
ENST00000615111.4:c.703C>T ENSP00000478291.1:p.Arg235Ter
ENST00000618088.4:c.703C>T ENSP00000482373.1:p.Arg235Ter
ENST00000620156.4:c.724C>T ENSP00000483403.1:p.Arg242Ter
ENST00000622294.2:c.703C>T ENSP00000483926.1:p.Arg235Ter
NM_000163.4:c.703C>T NP_000154.1:p.Arg235Ter
NM_001242399.2:c.724C>T NP_001229328.1:p.Arg242Ter
NM_001242400.2:c.703C>T NP_001229329.1:p.Arg235Ter
NM_001242401.3:c.703C>T NP_001229330.1:p.Arg235Ter
NM_001242402.2:c.703C>T NP_001229331.1:p.Arg235Ter
NM_001242403.2:c.703C>T NP_001229332.1:p.Arg235Ter
NM_001242404.2:c.703C>T NP_001229333.1:p.Arg235Ter
NM_001242405.2:c.703C>T NP_001229334.1:p.Arg235Ter
NM_001242406.2:c.703C>T NP_001229335.1:p.Arg235Ter
NM_001242460.1:c.637C>T NP_001229389.1:p.Arg213Ter
NM_001242462.1:c.703C>T NP_001229391.1:p.Arg235Ter
XM_011514031.1:c.658C>T XP_011512333.1:p.Arg220Ter
NM_000163.5:c.703C>T MANE Select NP_000154.1:p.Arg235Ter
NM_001242401.4:c.703C>T NP_001229330.1:p.Arg235Ter
NM_001242403.3:c.703C>T NP_001229332.1:p.Arg235Ter