Canonical Allele Identifier: CA5059030

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 968445
• ClinVar RCV Id: RCV001243580 ; RCV001279920
• dbSNP Id: rs369339903
• ExAC: 9:37426638 G / A
• gnomAD v2: 9-37426638-G-A
• gnomAD v3: 9-37426641-G-A
• gnomAD v4: 9-37426641-G-A
• MyVariant Identifiers: chr9:g.37426638G>A (hg19) ; chr9:g.37426641G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426641G>A , CM000671.2:g.37426641G>A	GRCh38
NC_000009.11:g.37426638G>A , CM000671.1:g.37426638G>A	GRCh37
NC_000009.10:g.37416638G>A	NCBI36
NG_008135.1:g.8932G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.391G>A MANE Select	ENSP00000313432.6:p.Glu131Lys
ENST00000318158.10:c.391G>A	ENSP00000313432.6:p.Glu131Lys
ENST00000377824.8:n.428G>A
ENST00000460882.5:n.418G>A
ENST00000487399.5:n.943G>A
ENST00000491488.5:n.110-1843G>A
ENST00000493368.5:n.448G>A
ENST00000607784.1:c.391G>A	ENSP00000475569.1:p.Glu131Lys
NM_012203.1:c.391G>A	NP_036335.1:p.Glu131Lys
XM_005251631.1:c.84-1843G>A	XP_005251688.1:n.84-1843G>A
XM_011518073.1:c.-372G>A	XP_011516375.1:n.-372G>A
XR_929374.1:n.476G>A
XM_017015320.2:c.391G>A	XP_016870809.1:p.Glu131Lys
XM_017015321.2:c.391G>A	XP_016870810.1:p.Glu131Lys
XM_017015323.2:c.-372G>A	XP_016870812.1:n.-372G>A
XM_024447716.1:c.664G>A	XP_024303484.1:p.Glu222Lys
XM_024447717.1:c.664G>A	XP_024303485.1:p.Glu222Lys
XR_002956828.1:n.679G>A
XR_002956829.1:n.679G>A
XR_002956830.1:n.450G>A
XR_002956831.1:n.139-1843G>A
XR_002956832.1:n.450G>A
NM_012203.2:c.391G>A MANE Select	NP_036335.1:p.Glu131Lys