Canonical Allele Identifier: CA2695201584

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2664109
• ClinVar RCV Id: RCV003445255

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436685_37436686dup , CM000671.2:g.37436685_37436686dup	GRCh38
NC_000009.11:g.37436682_37436683dup , CM000671.1:g.37436682_37436683dup	GRCh37
NC_000009.10:g.37426682_37426683dup	NCBI36
NG_008135.1:g.18976_18977dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.890_891dup MANE Select	ENSP00000313432.6:p.Thr298ProfsTer21
ENST00000318158.10:c.890_891dup	ENSP00000313432.6:p.Thr298ProfsTer21
ENST00000460882.5:n.917_918dup
ENST00000480596.5:n.1591_1592dup
ENST00000491488.5:n.595_596dup
ENST00000494290.1:c.*52-196_*52-195dup	ENSP00000432021.1:n.*52-196_*52-195dup
ENST00000497693.1:n.4458_4459dup
NM_012203.1:c.890_891dup	NP_036335.1:p.Thr298ProfsTer21
XM_005251631.1:c.569_570dup	XP_005251688.1:p.Thr191ProfsTer21
XM_011518073.1:c.488_489dup	XP_011516375.1:p.Thr164ProfsTer21
XM_017015320.2:c.946-726_946-725dup	XP_016870809.1:n.946-726_946-725dup
XM_017015321.2:c.866-726_866-725dup	XP_016870810.1:n.866-726_866-725dup
XM_017015323.2:c.544-726_544-725dup	XP_016870812.1:n.544-726_544-725dup
XM_024447716.1:c.1219-726_1219-725dup	XP_024303484.1:n.1219-726_1219-725dup
XM_024447717.1:c.1139-726_1139-725dup	XP_024303485.1:n.1139-726_1139-725dup
XR_002956828.1:n.1234-726_1234-725dup
XR_002956829.1:n.1154-726_1154-725dup
XR_002956830.1:n.2310_2311dup
XR_002956831.1:n.1985_1986dup
XR_002956832.1:n.1309_1310dup
NM_012203.2:c.890_891dup MANE Select	NP_036335.1:p.Thr298ProfsTer21