Canonical Allele Identifier: CA275906

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 204244
• ClinVar RCV Id: RCV000186451 ; RCV000806551
• dbSNP Id: rs180177317
• ExAC: 9:37432004 G / A
• gnomAD v2: 9-37432004-G-A
• gnomAD v4: 9-37432007-G-A
• MyVariant Identifiers: chr9:g.37432004G>A (hg19) ; chr9:g.37432007G>A (hg38)
• PubMed: PMID:11030416

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432007G>A , CM000671.2:g.37432007G>A	GRCh38
NC_000009.11:g.37432004G>A , CM000671.1:g.37432004G>A	GRCh37
NC_000009.10:g.37422004G>A	NCBI36
NG_008135.1:g.14298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.735-1G>A MANE Select	ENSP00000313432.6:n.735-1G>A
ENST00000318158.10:c.735-1G>A	ENSP00000313432.6:n.735-1G>A
ENST00000460882.5:n.762-1G>A
ENST00000480596.5:n.1436-1G>A
ENST00000482603.1:n.188-1G>A
ENST00000491488.5:n.440-1G>A
ENST00000494290.1:c.*51+856G>A	ENSP00000432021.1:n.*51+856G>A
ENST00000497693.1:n.4302G>A
ENST00000607784.1:c.735-1G>A	ENSP00000475569.1:n.735-1G>A
NM_012203.1:c.735-1G>A	NP_036335.1:n.735-1G>A
XM_005251631.1:c.414-1G>A	XP_005251688.1:n.414-1G>A
XM_011518073.1:c.333-1G>A	XP_011516375.1:n.333-1G>A
XM_017015320.2:c.735-1G>A	XP_016870809.1:n.735-1G>A
XM_017015321.2:c.735-1G>A	XP_016870810.1:n.735-1G>A
XM_017015323.2:c.333-1G>A	XP_016870812.1:n.333-1G>A
XM_024447716.1:c.1008-1G>A	XP_024303484.1:n.1008-1G>A
XM_024447717.1:c.1008-1G>A	XP_024303485.1:n.1008-1G>A
XR_002956828.1:n.1023-1G>A
XR_002956829.1:n.1023-1G>A
XR_002956830.1:n.2154G>A
XR_002956831.1:n.1829G>A
XR_002956832.1:n.1154-1G>A
NM_012203.2:c.735-1G>A MANE Select	NP_036335.1:n.735-1G>A