Canonical Allele Identifier: CA119817

Gene: GHR

Linked Data

• ClinVar Variation Id: 8662
• ClinVar RCV Id: RCV000009194
• dbSNP Id: rs121909372
• MyVariant Identifiers: chr5:g.42695087G>C (hg19) ; chr5:g.42694985G>C (hg38)
• PubMed: PMID:17405847

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42694985G>C , CM000667.2:g.42694985G>C	GRCh38
NC_000005.9:g.42695087G>C , CM000667.1:g.42695087G>C	GRCh37
NC_000005.8:g.42730844G>C	NCBI36
NG_011688.1:g.276062G>C
NG_011688.2:g.276062G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000230882.9:c.335G>C MANE Select	ENSP00000230882.4:p.Cys112Ser
ENST00000230882.8:c.335G>C	ENSP00000230882.4:p.Cys112Ser
ENST00000357703.6:c.269G>C	ENSP00000350335.3:p.Cys90Ser
ENST00000511135.5:c.205G>C	ENSP00000422333.1:p.Val69Leu
ENST00000537449.5:c.335G>C	ENSP00000442206.2:p.Cys112Ser
ENST00000612382.4:c.335G>C	ENSP00000478332.1:p.Cys112Ser
ENST00000612626.4:c.335G>C	ENSP00000479846.1:p.Cys112Ser
ENST00000615111.4:c.335G>C	ENSP00000478291.1:p.Cys112Ser
ENST00000618088.4:c.335G>C	ENSP00000482373.1:p.Cys112Ser
ENST00000620156.4:c.356G>C	ENSP00000483403.1:p.Cys119Ser
ENST00000622294.2:c.335G>C	ENSP00000483926.1:p.Cys112Ser
NM_000163.4:c.335G>C	NP_000154.1:p.Cys112Ser
NM_001242399.2:c.356G>C	NP_001229328.1:p.Cys119Ser
NM_001242400.2:c.335G>C	NP_001229329.1:p.Cys112Ser
NM_001242401.3:c.335G>C	NP_001229330.1:p.Cys112Ser
NM_001242402.2:c.335G>C	NP_001229331.1:p.Cys112Ser
NM_001242403.2:c.335G>C	NP_001229332.1:p.Cys112Ser
NM_001242404.2:c.335G>C	NP_001229333.1:p.Cys112Ser
NM_001242405.2:c.335G>C	NP_001229334.1:p.Cys112Ser
NM_001242406.2:c.335G>C	NP_001229335.1:p.Cys112Ser
NM_001242460.1:c.269G>C	NP_001229389.1:p.Cys90Ser
NM_001242462.1:c.335G>C	NP_001229391.1:p.Cys112Ser
XM_011514031.1:c.290G>C	XP_011512333.1:p.Cys97Ser
NM_000163.5:c.335G>C MANE Select	NP_000154.1:p.Cys112Ser
NM_001242401.4:c.335G>C	NP_001229330.1:p.Cys112Ser
NM_001242403.3:c.335G>C	NP_001229332.1:p.Cys112Ser