Canonical Allele Identifier: CA3254465

Gene: GHR

Linked Data

• ClinVar Variation Id: 1186321
• ClinVar RCV Id: RCV001545379
• dbSNP Id: rs762344584
• ExAC: 5:42711343 A / G
• gnomAD v2: 5-42711343-A-G
• gnomAD v4: 5-42711241-A-G
• MyVariant Identifiers: chr5:g.42711343A>G (hg19) ; chr5:g.42711241A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42711241A>G , CM000667.2:g.42711241A>G	GRCh38
NC_000005.9:g.42711343A>G , CM000667.1:g.42711343A>G	GRCh37
NC_000005.8:g.42747100A>G	NCBI36
NG_011688.1:g.292318A>G
NG_011688.2:g.292318A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230882.9:c.653A>G MANE Select	ENSP00000230882.4:p.Tyr218Cys
ENST00000230882.8:c.653A>G	ENSP00000230882.4:p.Tyr218Cys
ENST00000357703.6:c.587A>G	ENSP00000350335.3:p.Tyr196Cys
ENST00000511135.5:c.*265A>G	ENSP00000422333.1:n.*265A>G
ENST00000537449.5:c.653A>G	ENSP00000442206.2:p.Tyr218Cys
ENST00000612382.4:c.653A>G	ENSP00000478332.1:p.Tyr218Cys
ENST00000612626.4:c.653A>G	ENSP00000479846.1:p.Tyr218Cys
ENST00000615111.4:c.653A>G	ENSP00000478291.1:p.Tyr218Cys
ENST00000618088.4:c.653A>G	ENSP00000482373.1:p.Tyr218Cys
ENST00000620156.4:c.674A>G	ENSP00000483403.1:p.Tyr225Cys
ENST00000622294.2:c.653A>G	ENSP00000483926.1:p.Tyr218Cys
NM_000163.4:c.653A>G	NP_000154.1:p.Tyr218Cys
NM_001242399.2:c.674A>G	NP_001229328.1:p.Tyr225Cys
NM_001242400.2:c.653A>G	NP_001229329.1:p.Tyr218Cys
NM_001242401.3:c.653A>G	NP_001229330.1:p.Tyr218Cys
NM_001242402.2:c.653A>G	NP_001229331.1:p.Tyr218Cys
NM_001242403.2:c.653A>G	NP_001229332.1:p.Tyr218Cys
NM_001242404.2:c.653A>G	NP_001229333.1:p.Tyr218Cys
NM_001242405.2:c.653A>G	NP_001229334.1:p.Tyr218Cys
NM_001242406.2:c.653A>G	NP_001229335.1:p.Tyr218Cys
NM_001242460.1:c.587A>G	NP_001229389.1:p.Tyr196Cys
NM_001242462.1:c.653A>G	NP_001229391.1:p.Tyr218Cys
XM_011514031.1:c.608A>G	XP_011512333.1:p.Tyr203Cys
NM_000163.5:c.653A>G MANE Select	NP_000154.1:p.Tyr218Cys
NM_001242401.4:c.653A>G	NP_001229330.1:p.Tyr218Cys
NM_001242403.3:c.653A>G	NP_001229332.1:p.Tyr218Cys