Canonical Allele Identifier: CA5059135

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 366856
• ClinVar RCV Id: RCV000350258 ; RCV000906304 ; RCV003912579
• dbSNP Id: rs200106110
• ExAC: 9:37429747 G / A
• gnomAD v2: 9-37429747-G-A
• gnomAD v3: 9-37429750-G-A
• gnomAD v4: 9-37429750-G-A
• COSMIC: COSM4374330 ; COSM4374331
• MyVariant Identifiers: chr9:g.37429747G>A (hg19) ; chr9:g.37429750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429750G>A , CM000671.2:g.37429750G>A	GRCh38
NC_000009.11:g.37429747G>A , CM000671.1:g.37429747G>A	GRCh37
NC_000009.10:g.37419747G>A	NCBI36
NG_008135.1:g.12041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.512G>A MANE Select	ENSP00000313432.6:p.Arg171His
ENST00000318158.10:c.512G>A	ENSP00000313432.6:p.Arg171His
ENST00000377824.8:n.549G>A
ENST00000460882.5:n.539G>A
ENST00000480596.5:n.1213G>A
ENST00000491488.5:n.217G>A
ENST00000494290.1:c.83G>A	ENSP00000432021.1:p.Arg28His
ENST00000497693.1:n.2045G>A
ENST00000607784.1:c.512G>A	ENSP00000475569.1:p.Arg171His
NM_012203.1:c.512G>A	NP_036335.1:p.Arg171His
XM_005251631.1:c.191G>A	XP_005251688.1:p.Arg64His
XM_011518073.1:c.110G>A	XP_011516375.1:p.Arg37His
XR_929374.1:n.957G>A
XM_017015320.2:c.512G>A	XP_016870809.1:p.Arg171His
XM_017015321.2:c.512G>A	XP_016870810.1:p.Arg171His
XM_017015323.2:c.110G>A	XP_016870812.1:p.Arg37His
XM_024447716.1:c.785G>A	XP_024303484.1:p.Arg262His
XM_024447717.1:c.785G>A	XP_024303485.1:p.Arg262His
XR_002956828.1:n.800G>A
XR_002956829.1:n.800G>A
XR_002956830.1:n.571G>A
XR_002956831.1:n.246G>A
XR_002956832.1:n.931G>A
NM_012203.2:c.512G>A MANE Select	NP_036335.1:p.Arg171His