Canonical Allele Identifier: CA373443450

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37429795C>A (hg19) ; chr9:g.37429798C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429798C>A , CM000671.2:g.37429798C>A	GRCh38
NC_000009.11:g.37429795C>A , CM000671.1:g.37429795C>A	GRCh37
NC_000009.10:g.37419795C>A	NCBI36
NG_008135.1:g.12089C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.560C>A MANE Select	ENSP00000313432.6:p.Pro187His
ENST00000318158.10:c.560C>A	ENSP00000313432.6:p.Pro187His
ENST00000377824.8:n.597C>A
ENST00000460882.5:n.587C>A
ENST00000480596.5:n.1261C>A
ENST00000482603.1:n.13C>A
ENST00000491488.5:n.265C>A
ENST00000494290.1:c.131C>A	ENSP00000432021.1:p.Pro44His
ENST00000497693.1:n.2093C>A
ENST00000607784.1:c.560C>A	ENSP00000475569.1:p.Pro187His
NM_012203.1:c.560C>A	NP_036335.1:p.Pro187His
XM_005251631.1:c.239C>A	XP_005251688.1:p.Pro80His
XM_011518073.1:c.158C>A	XP_011516375.1:p.Pro53His
XR_929374.1:n.1005C>A
XM_017015320.2:c.560C>A	XP_016870809.1:p.Pro187His
XM_017015321.2:c.560C>A	XP_016870810.1:p.Pro187His
XM_017015323.2:c.158C>A	XP_016870812.1:p.Pro53His
XM_024447716.1:c.833C>A	XP_024303484.1:p.Pro278His
XM_024447717.1:c.833C>A	XP_024303485.1:p.Pro278His
XR_002956828.1:n.848C>A
XR_002956829.1:n.848C>A
XR_002956830.1:n.619C>A
XR_002956831.1:n.294C>A
XR_002956832.1:n.979C>A
NM_012203.2:c.560C>A MANE Select	NP_036335.1:p.Pro187His