Canonical Allele Identifier: CA373443426

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 912558
• ClinVar RCV Id: RCV001165836
• dbSNP Id: rs1327662246
• gnomAD v2: 9-37429789-G-A
• gnomAD v3: 9-37429792-G-A
• gnomAD v4: 9-37429792-G-A
• MyVariant Identifiers: chr9:g.37429789G>A (hg19) ; chr9:g.37429792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429792G>A , CM000671.2:g.37429792G>A	GRCh38
NC_000009.11:g.37429789G>A , CM000671.1:g.37429789G>A	GRCh37
NC_000009.10:g.37419789G>A	NCBI36
NG_008135.1:g.12083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.554G>A MANE Select	ENSP00000313432.6:p.Arg185His
ENST00000318158.10:c.554G>A	ENSP00000313432.6:p.Arg185His
ENST00000377824.8:n.591G>A
ENST00000460882.5:n.581G>A
ENST00000480596.5:n.1255G>A
ENST00000482603.1:n.7G>A
ENST00000491488.5:n.259G>A
ENST00000494290.1:c.125G>A	ENSP00000432021.1:p.Arg42His
ENST00000497693.1:n.2087G>A
ENST00000607784.1:c.554G>A	ENSP00000475569.1:p.Arg185His
NM_012203.1:c.554G>A	NP_036335.1:p.Arg185His
XM_005251631.1:c.233G>A	XP_005251688.1:p.Arg78His
XM_011518073.1:c.152G>A	XP_011516375.1:p.Arg51His
XR_929374.1:n.999G>A
XM_017015320.2:c.554G>A	XP_016870809.1:p.Arg185His
XM_017015321.2:c.554G>A	XP_016870810.1:p.Arg185His
XM_017015323.2:c.152G>A	XP_016870812.1:p.Arg51His
XM_024447716.1:c.827G>A	XP_024303484.1:p.Arg276His
XM_024447717.1:c.827G>A	XP_024303485.1:p.Arg276His
XR_002956828.1:n.842G>A
XR_002956829.1:n.842G>A
XR_002956830.1:n.613G>A
XR_002956831.1:n.288G>A
XR_002956832.1:n.973G>A
NM_012203.2:c.554G>A MANE Select	NP_036335.1:p.Arg185His