Canonical Allele Identifier: CA3254331

Gene: GHR

Linked Data

• dbSNP Id: rs778906663
• ExAC: 5:42688954 C / T
• gnomAD v2: 5-42688954-C-T
• gnomAD v3: 5-42688852-C-T
• gnomAD v4: 5-42688852-C-T
• MyVariant Identifiers: chr5:g.42688954C>T (hg19) ; chr5:g.42688852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42688852C>T , CM000667.2:g.42688852C>T	GRCh38
NC_000005.9:g.42688954C>T , CM000667.1:g.42688954C>T	GRCh37
NC_000005.8:g.42724711C>T	NCBI36
NG_011688.1:g.269929C>T
NG_011688.2:g.269929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230882.9:c.137-38C>T MANE Select	ENSP00000230882.4:n.137-38C>T
ENST00000230882.8:c.137-38C>T	ENSP00000230882.4:n.137-38C>T
ENST00000357703.6:c.71-38C>T	ENSP00000350335.3:n.71-38C>T
ENST00000511135.5:c.137-6065C>T	ENSP00000422333.1:n.137-6065C>T
ENST00000537449.5:c.137-38C>T	ENSP00000442206.2:n.137-38C>T
ENST00000612382.4:c.137-38C>T	ENSP00000478332.1:n.137-38C>T
ENST00000612626.4:c.137-38C>T	ENSP00000479846.1:n.137-38C>T
ENST00000615111.4:c.137-38C>T	ENSP00000478291.1:n.137-38C>T
ENST00000618088.4:c.137-38C>T	ENSP00000482373.1:n.137-38C>T
ENST00000620156.4:c.158-38C>T	ENSP00000483403.1:n.158-38C>T
ENST00000622294.2:c.137-38C>T	ENSP00000483926.1:n.137-38C>T
NM_000163.4:c.137-38C>T	NP_000154.1:n.137-38C>T
NM_001242399.2:c.158-38C>T	NP_001229328.1:n.158-38C>T
NM_001242400.2:c.137-38C>T	NP_001229329.1:n.137-38C>T
NM_001242401.3:c.137-38C>T	NP_001229330.1:n.137-38C>T
NM_001242402.2:c.137-38C>T	NP_001229331.1:n.137-38C>T
NM_001242403.2:c.137-38C>T	NP_001229332.1:n.137-38C>T
NM_001242404.2:c.137-38C>T	NP_001229333.1:n.137-38C>T
NM_001242405.2:c.137-38C>T	NP_001229334.1:n.137-38C>T
NM_001242406.2:c.137-38C>T	NP_001229335.1:n.137-38C>T
NM_001242460.1:c.71-38C>T	NP_001229389.1:n.71-38C>T
NM_001242462.1:c.137-38C>T	NP_001229391.1:n.137-38C>T
XM_011514031.1:c.92-38C>T	XP_011512333.1:n.92-38C>T
NM_000163.5:c.137-38C>T MANE Select	NP_000154.1:n.137-38C>T
NM_001242401.4:c.137-38C>T	NP_001229330.1:n.137-38C>T
NM_001242403.3:c.137-38C>T	NP_001229332.1:n.137-38C>T