Canonical Allele Identifier: CA465003929

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1096861
• ClinVar RCV Id: RCV001418219
• dbSNP Id: rs2118866010
• gnomAD v4: 9-37426646-A-G
• MyVariant Identifiers: chr9:g.37426643A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426646A>G , CM000671.2:g.37426646A>G	GRCh38
NC_000009.11:g.37426643A>G , CM000671.1:g.37426643A>G	GRCh37
NC_000009.10:g.37416643A>G	NCBI36
NG_008135.1:g.8937A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.396A>G MANE Select	ENSP00000313432.6:p.Glu132=
ENST00000318158.10:c.396A>G	ENSP00000313432.6:p.Glu132=
ENST00000377824.8:n.433A>G
ENST00000460882.5:n.423A>G
ENST00000487399.5:n.948A>G
ENST00000491488.5:n.110-1838A>G
ENST00000493368.5:n.453A>G
ENST00000607784.1:c.396A>G	ENSP00000475569.1:p.Glu132=
NM_012203.1:c.396A>G	NP_036335.1:p.Glu132=
XM_005251631.1:c.84-1838A>G	XP_005251688.1:n.84-1838A>G
XM_011518073.1:c.-367A>G	XP_011516375.1:n.-367A>G
XR_929374.1:n.481A>G
XM_017015320.2:c.396A>G	XP_016870809.1:p.Glu132=
XM_017015321.2:c.396A>G	XP_016870810.1:p.Glu132=
XM_017015323.2:c.-367A>G	XP_016870812.1:n.-367A>G
XM_024447716.1:c.669A>G	XP_024303484.1:p.Glu223=
XM_024447717.1:c.669A>G	XP_024303485.1:p.Glu223=
XR_002956828.1:n.684A>G
XR_002956829.1:n.684A>G
XR_002956830.1:n.455A>G
XR_002956831.1:n.139-1838A>G
XR_002956832.1:n.455A>G
NM_012203.2:c.396A>G MANE Select	NP_036335.1:p.Glu132=