Canonical Allele Identifier: CA373443418

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 912557
• ClinVar RCV Id: RCV001165835
• dbSNP Id: rs1823271331
• gnomAD v3: 9-37429789-G-A
• gnomAD v4: 9-37429789-G-A
• MyVariant Identifiers: chr9:g.37429786G>A (hg19) ; chr9:g.37429789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429789G>A , CM000671.2:g.37429789G>A	GRCh38
NC_000009.11:g.37429786G>A , CM000671.1:g.37429786G>A	GRCh37
NC_000009.10:g.37419786G>A	NCBI36
NG_008135.1:g.12080G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.551G>A MANE Select	ENSP00000313432.6:p.Gly184Glu
ENST00000318158.10:c.551G>A	ENSP00000313432.6:p.Gly184Glu
ENST00000377824.8:n.588G>A
ENST00000460882.5:n.578G>A
ENST00000480596.5:n.1252G>A
ENST00000482603.1:n.4G>A
ENST00000491488.5:n.256G>A
ENST00000494290.1:c.122G>A	ENSP00000432021.1:p.Gly41Glu
ENST00000497693.1:n.2084G>A
ENST00000607784.1:c.551G>A	ENSP00000475569.1:p.Gly184Glu
NM_012203.1:c.551G>A	NP_036335.1:p.Gly184Glu
XM_005251631.1:c.230G>A	XP_005251688.1:p.Gly77Glu
XM_011518073.1:c.149G>A	XP_011516375.1:p.Gly50Glu
XR_929374.1:n.996G>A
XM_017015320.2:c.551G>A	XP_016870809.1:p.Gly184Glu
XM_017015321.2:c.551G>A	XP_016870810.1:p.Gly184Glu
XM_017015323.2:c.149G>A	XP_016870812.1:p.Gly50Glu
XM_024447716.1:c.824G>A	XP_024303484.1:p.Gly275Glu
XM_024447717.1:c.824G>A	XP_024303485.1:p.Gly275Glu
XR_002956828.1:n.839G>A
XR_002956829.1:n.839G>A
XR_002956830.1:n.610G>A
XR_002956831.1:n.285G>A
XR_002956832.1:n.970G>A
NM_012203.2:c.551G>A MANE Select	NP_036335.1:p.Gly184Glu