Canonical Allele Identifier: CA275891

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 204235
• ClinVar RCV Id: RCV000186442 ; RCV000585941 ; RCV000802868 ; RCV003927729
• dbSNP Id: rs180177314
• ExAC: 9:37429729 G / A
• gnomAD v2: 9-37429729-G-A
• gnomAD v3: 9-37429732-G-A
• gnomAD v4: 9-37429732-G-A
• MyVariant Identifiers: chr9:g.37429729G>A (hg19) ; chr9:g.37429732G>A (hg38)
• PubMed: PMID:11030416

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429732G>A , CM000671.2:g.37429732G>A	GRCh38
NC_000009.11:g.37429729G>A , CM000671.1:g.37429729G>A	GRCh37
NC_000009.10:g.37419729G>A	NCBI36
NG_008135.1:g.12023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.494G>A MANE Select	ENSP00000313432.6:p.Gly165Asp
ENST00000318158.10:c.494G>A	ENSP00000313432.6:p.Gly165Asp
ENST00000377824.8:n.531G>A
ENST00000460882.5:n.521G>A
ENST00000480596.5:n.1195G>A
ENST00000491488.5:n.199G>A
ENST00000494290.1:c.65G>A	ENSP00000432021.1:p.Gly22Asp
ENST00000497693.1:n.2027G>A
ENST00000607784.1:c.494G>A	ENSP00000475569.1:p.Gly165Asp
NM_012203.1:c.494G>A	NP_036335.1:p.Gly165Asp
XM_005251631.1:c.173G>A	XP_005251688.1:p.Gly58Asp
XM_011518073.1:c.92G>A	XP_011516375.1:p.Gly31Asp
XR_929374.1:n.939G>A
XM_017015320.2:c.494G>A	XP_016870809.1:p.Gly165Asp
XM_017015321.2:c.494G>A	XP_016870810.1:p.Gly165Asp
XM_017015323.2:c.92G>A	XP_016870812.1:p.Gly31Asp
XM_024447716.1:c.767G>A	XP_024303484.1:p.Gly256Asp
XM_024447717.1:c.767G>A	XP_024303485.1:p.Gly256Asp
XR_002956828.1:n.782G>A
XR_002956829.1:n.782G>A
XR_002956830.1:n.553G>A
XR_002956831.1:n.228G>A
XR_002956832.1:n.913G>A
NM_012203.2:c.494G>A MANE Select	NP_036335.1:p.Gly165Asp