Canonical Allele Identifier: CA3254458

Gene: GHR

Linked Data

• dbSNP Id: rs534627417
• ExAC: 5:42711309 A / G
• gnomAD v2: 5-42711309-A-G
• gnomAD v3: 5-42711207-A-G
• gnomAD v4: 5-42711207-A-G
• MyVariant Identifiers: chr5:g.42711309A>G (hg19) ; chr5:g.42711207A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42711207A>G , CM000667.2:g.42711207A>G	GRCh38
NC_000005.9:g.42711309A>G , CM000667.1:g.42711309A>G	GRCh37
NC_000005.8:g.42747066A>G	NCBI36
NG_011688.1:g.292284A>G
NG_011688.2:g.292284A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000230882.9:c.619A>G MANE Select	ENSP00000230882.4:p.Met207Val
ENST00000230882.8:c.619A>G	ENSP00000230882.4:p.Met207Val
ENST00000357703.6:c.553A>G	ENSP00000350335.3:p.Met185Val
ENST00000511135.5:c.*231A>G	ENSP00000422333.1:n.*231A>G
ENST00000537449.5:c.619A>G	ENSP00000442206.2:p.Met207Val
ENST00000612382.4:c.619A>G	ENSP00000478332.1:p.Met207Val
ENST00000612626.4:c.619A>G	ENSP00000479846.1:p.Met207Val
ENST00000615111.4:c.619A>G	ENSP00000478291.1:p.Met207Val
ENST00000618088.4:c.619A>G	ENSP00000482373.1:p.Met207Val
ENST00000620156.4:c.640A>G	ENSP00000483403.1:p.Met214Val
ENST00000622294.2:c.619A>G	ENSP00000483926.1:p.Met207Val
NM_000163.4:c.619A>G	NP_000154.1:p.Met207Val
NM_001242399.2:c.640A>G	NP_001229328.1:p.Met214Val
NM_001242400.2:c.619A>G	NP_001229329.1:p.Met207Val
NM_001242401.3:c.619A>G	NP_001229330.1:p.Met207Val
NM_001242402.2:c.619A>G	NP_001229331.1:p.Met207Val
NM_001242403.2:c.619A>G	NP_001229332.1:p.Met207Val
NM_001242404.2:c.619A>G	NP_001229333.1:p.Met207Val
NM_001242405.2:c.619A>G	NP_001229334.1:p.Met207Val
NM_001242406.2:c.619A>G	NP_001229335.1:p.Met207Val
NM_001242460.1:c.553A>G	NP_001229389.1:p.Met185Val
NM_001242462.1:c.619A>G	NP_001229391.1:p.Met207Val
XM_011514031.1:c.574A>G	XP_011512333.1:p.Met192Val
NM_000163.5:c.619A>G MANE Select	NP_000154.1:p.Met207Val
NM_001242401.4:c.619A>G	NP_001229330.1:p.Met207Val
NM_001242403.3:c.619A>G	NP_001229332.1:p.Met207Val