Canonical Allele Identifier: CA3254460

Gene: GHR

Linked Data

• dbSNP Id: rs375404009
• ExAC: 5:42711325 C / T
• gnomAD v2: 5-42711325-C-T
• MyVariant Identifiers: chr5:g.42711325C>T (hg19) ; chr5:g.42711223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42711223C>T , CM000667.2:g.42711223C>T	GRCh38
NC_000005.9:g.42711325C>T , CM000667.1:g.42711325C>T	GRCh37
NC_000005.8:g.42747082C>T	NCBI36
NG_011688.1:g.292300C>T
NG_011688.2:g.292300C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000230882.9:c.635C>T MANE Select	ENSP00000230882.4:p.Thr212Ile
ENST00000230882.8:c.635C>T	ENSP00000230882.4:p.Thr212Ile
ENST00000357703.6:c.569C>T	ENSP00000350335.3:p.Thr190Ile
ENST00000511135.5:c.*247C>T	ENSP00000422333.1:n.*247C>T
ENST00000537449.5:c.635C>T	ENSP00000442206.2:p.Thr212Ile
ENST00000612382.4:c.635C>T	ENSP00000478332.1:p.Thr212Ile
ENST00000612626.4:c.635C>T	ENSP00000479846.1:p.Thr212Ile
ENST00000615111.4:c.635C>T	ENSP00000478291.1:p.Thr212Ile
ENST00000618088.4:c.635C>T	ENSP00000482373.1:p.Thr212Ile
ENST00000620156.4:c.656C>T	ENSP00000483403.1:p.Thr219Ile
ENST00000622294.2:c.635C>T	ENSP00000483926.1:p.Thr212Ile
NM_000163.4:c.635C>T	NP_000154.1:p.Thr212Ile
NM_001242399.2:c.656C>T	NP_001229328.1:p.Thr219Ile
NM_001242400.2:c.635C>T	NP_001229329.1:p.Thr212Ile
NM_001242401.3:c.635C>T	NP_001229330.1:p.Thr212Ile
NM_001242402.2:c.635C>T	NP_001229331.1:p.Thr212Ile
NM_001242403.2:c.635C>T	NP_001229332.1:p.Thr212Ile
NM_001242404.2:c.635C>T	NP_001229333.1:p.Thr212Ile
NM_001242405.2:c.635C>T	NP_001229334.1:p.Thr212Ile
NM_001242406.2:c.635C>T	NP_001229335.1:p.Thr212Ile
NM_001242460.1:c.569C>T	NP_001229389.1:p.Thr190Ile
NM_001242462.1:c.635C>T	NP_001229391.1:p.Thr212Ile
XM_011514031.1:c.590C>T	XP_011512333.1:p.Thr197Ile
NM_000163.5:c.635C>T MANE Select	NP_000154.1:p.Thr212Ile
NM_001242401.4:c.635C>T	NP_001229330.1:p.Thr212Ile
NM_001242403.3:c.635C>T	NP_001229332.1:p.Thr212Ile