Canonical Allele Identifier: CA5059027

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1168400
• ClinVar RCV Id: RCV001518616 ; RCV001832703
• dbSNP Id: rs529454212
• ExAC: 9:37426634 C / A
• gnomAD v2: 9-37426634-C-A
• gnomAD v3: 9-37426637-C-A
• gnomAD v4: 9-37426637-C-A
• MyVariant Identifiers: chr9:g.37426634C>A (hg19) ; chr9:g.37426637C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426637C>A , CM000671.2:g.37426637C>A	GRCh38
NC_000009.11:g.37426634C>A , CM000671.1:g.37426634C>A	GRCh37
NC_000009.10:g.37416634C>A	NCBI36
NG_008135.1:g.8928C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.387C>A MANE Select	ENSP00000313432.6:p.Ala129=
ENST00000318158.10:c.387C>A	ENSP00000313432.6:p.Ala129=
ENST00000377824.8:n.424C>A
ENST00000460882.5:n.414C>A
ENST00000487399.5:n.939C>A
ENST00000491488.5:n.110-1847C>A
ENST00000493368.5:n.444C>A
ENST00000607784.1:c.387C>A	ENSP00000475569.1:p.Ala129=
NM_012203.1:c.387C>A	NP_036335.1:p.Ala129=
XM_005251631.1:c.84-1847C>A	XP_005251688.1:n.84-1847C>A
XM_011518073.1:c.-376C>A	XP_011516375.1:n.-376C>A
XR_929374.1:n.472C>A
XM_017015320.2:c.387C>A	XP_016870809.1:p.Ala129=
XM_017015321.2:c.387C>A	XP_016870810.1:p.Ala129=
XM_017015323.2:c.-376C>A	XP_016870812.1:n.-376C>A
XM_024447716.1:c.660C>A	XP_024303484.1:p.Ala220=
XM_024447717.1:c.660C>A	XP_024303485.1:p.Ala220=
XR_002956828.1:n.675C>A
XR_002956829.1:n.675C>A
XR_002956830.1:n.446C>A
XR_002956831.1:n.139-1847C>A
XR_002956832.1:n.446C>A
NM_012203.2:c.387C>A MANE Select	NP_036335.1:p.Ala129=