Canonical Allele Identifier: CA465004091

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2701798
• ClinVar RCV Id: RCV003549870
• gnomAD v4: 9-37429772-G-A
• MyVariant Identifiers: chr9:g.37429769G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429772G>A , CM000671.2:g.37429772G>A	GRCh38
NC_000009.11:g.37429769G>A , CM000671.1:g.37429769G>A	GRCh37
NC_000009.10:g.37419769G>A	NCBI36
NG_008135.1:g.12063G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.534G>A MANE Select	ENSP00000313432.6:p.Gln178=
ENST00000318158.10:c.534G>A	ENSP00000313432.6:p.Gln178=
ENST00000377824.8:n.571G>A
ENST00000460882.5:n.561G>A
ENST00000480596.5:n.1235G>A
ENST00000491488.5:n.239G>A
ENST00000494290.1:c.105G>A	ENSP00000432021.1:p.Gln35=
ENST00000497693.1:n.2067G>A
ENST00000607784.1:c.534G>A	ENSP00000475569.1:p.Gln178=
NM_012203.1:c.534G>A	NP_036335.1:p.Gln178=
XM_005251631.1:c.213G>A	XP_005251688.1:p.Gln71=
XM_011518073.1:c.132G>A	XP_011516375.1:p.Gln44=
XR_929374.1:n.979G>A
XM_017015320.2:c.534G>A	XP_016870809.1:p.Gln178=
XM_017015321.2:c.534G>A	XP_016870810.1:p.Gln178=
XM_017015323.2:c.132G>A	XP_016870812.1:p.Gln44=
XM_024447716.1:c.807G>A	XP_024303484.1:p.Gln269=
XM_024447717.1:c.807G>A	XP_024303485.1:p.Gln269=
XR_002956828.1:n.822G>A
XR_002956829.1:n.822G>A
XR_002956830.1:n.593G>A
XR_002956831.1:n.268G>A
XR_002956832.1:n.953G>A
NM_012203.2:c.534G>A MANE Select	NP_036335.1:p.Gln178=