Canonical Allele Identifier: CA5059146

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 765407
• ClinVar RCV Id: RCV000943826
• dbSNP Id: rs749299411
• ExAC: 9:37429805 G / A
• gnomAD v2: 9-37429805-G-A
• gnomAD v4: 9-37429808-G-A
• MyVariant Identifiers: chr9:g.37429805G>A (hg19) ; chr9:g.37429808G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429808G>A , CM000671.2:g.37429808G>A	GRCh38
NC_000009.11:g.37429805G>A , CM000671.1:g.37429805G>A	GRCh37
NC_000009.10:g.37419805G>A	NCBI36
NG_008135.1:g.12099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.570G>A MANE Select	ENSP00000313432.6:p.Glu190=
ENST00000318158.10:c.570G>A	ENSP00000313432.6:p.Glu190=
ENST00000377824.8:n.607G>A
ENST00000460882.5:n.597G>A
ENST00000480596.5:n.1271G>A
ENST00000482603.1:n.23G>A
ENST00000491488.5:n.275G>A
ENST00000494290.1:c.141G>A	ENSP00000432021.1:p.Glu47=
ENST00000497693.1:n.2103G>A
ENST00000607784.1:c.570G>A	ENSP00000475569.1:p.Glu190=
NM_012203.1:c.570G>A	NP_036335.1:p.Glu190=
XM_005251631.1:c.249G>A	XP_005251688.1:p.Glu83=
XM_011518073.1:c.168G>A	XP_011516375.1:p.Glu56=
XR_929374.1:n.1015G>A
XM_017015320.2:c.570G>A	XP_016870809.1:p.Glu190=
XM_017015321.2:c.570G>A	XP_016870810.1:p.Glu190=
XM_017015323.2:c.168G>A	XP_016870812.1:p.Glu56=
XM_024447716.1:c.843G>A	XP_024303484.1:p.Glu281=
XM_024447717.1:c.843G>A	XP_024303485.1:p.Glu281=
XR_002956828.1:n.858G>A
XR_002956829.1:n.858G>A
XR_002956830.1:n.629G>A
XR_002956831.1:n.304G>A
XR_002956832.1:n.989G>A
NM_012203.2:c.570G>A MANE Select	NP_036335.1:p.Glu190=