Canonical Allele Identifier: CA359695177

Gene: GHR

Linked Data

• dbSNP Id: rs776352428
• gnomAD v2: 5-42695102-C-T
• gnomAD v3: 5-42695000-C-T
• gnomAD v4: 5-42695000-C-T
• COSMIC: COSM3920111
• MyVariant Identifiers: chr5:g.42695102C>T (hg19) ; chr5:g.42695000C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42695000C>T , CM000667.2:g.42695000C>T	GRCh38
NC_000005.9:g.42695102C>T , CM000667.1:g.42695102C>T	GRCh37
NC_000005.8:g.42730859C>T	NCBI36
NG_011688.1:g.276077C>T
NG_011688.2:g.276077C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000230882.9:c.350C>T MANE Select	ENSP00000230882.4:p.Ser117Leu
ENST00000230882.8:c.350C>T	ENSP00000230882.4:p.Ser117Leu
ENST00000357703.6:c.284C>T	ENSP00000350335.3:p.Ser95Leu
ENST00000511135.5:c.220C>T	ENSP00000422333.1:p.Arg74Cys
ENST00000537449.5:c.350C>T	ENSP00000442206.2:p.Ser117Leu
ENST00000612382.4:c.350C>T	ENSP00000478332.1:p.Ser117Leu
ENST00000612626.4:c.350C>T	ENSP00000479846.1:p.Ser117Leu
ENST00000615111.4:c.350C>T	ENSP00000478291.1:p.Ser117Leu
ENST00000618088.4:c.350C>T	ENSP00000482373.1:p.Ser117Leu
ENST00000620156.4:c.371C>T	ENSP00000483403.1:p.Ser124Leu
ENST00000622294.2:c.350C>T	ENSP00000483926.1:p.Ser117Leu
NM_000163.4:c.350C>T	NP_000154.1:p.Ser117Leu
NM_001242399.2:c.371C>T	NP_001229328.1:p.Ser124Leu
NM_001242400.2:c.350C>T	NP_001229329.1:p.Ser117Leu
NM_001242401.3:c.350C>T	NP_001229330.1:p.Ser117Leu
NM_001242402.2:c.350C>T	NP_001229331.1:p.Ser117Leu
NM_001242403.2:c.350C>T	NP_001229332.1:p.Ser117Leu
NM_001242404.2:c.350C>T	NP_001229333.1:p.Ser117Leu
NM_001242405.2:c.350C>T	NP_001229334.1:p.Ser117Leu
NM_001242406.2:c.350C>T	NP_001229335.1:p.Ser117Leu
NM_001242460.1:c.284C>T	NP_001229389.1:p.Ser95Leu
NM_001242462.1:c.350C>T	NP_001229391.1:p.Ser117Leu
XM_011514031.1:c.305C>T	XP_011512333.1:p.Ser102Leu
NM_000163.5:c.350C>T MANE Select	NP_000154.1:p.Ser117Leu
NM_001242401.4:c.350C>T	NP_001229330.1:p.Ser117Leu
NM_001242403.3:c.350C>T	NP_001229332.1:p.Ser117Leu