Canonical Allele Identifier: CA5059067

Gene: GRHPR

Linked Data

• dbSNP Id: rs754089807
• ExAC: 9:37428565 C / G
• gnomAD v2: 9-37428565-C-G
• gnomAD v4: 9-37428568-C-G
• MyVariant Identifiers: chr9:g.37428565C>G (hg19) ; chr9:g.37428568C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428568C>G , CM000671.2:g.37428568C>G	GRCh38
NC_000009.11:g.37428565C>G , CM000671.1:g.37428565C>G	GRCh37
NC_000009.10:g.37418565C>G	NCBI36
NG_008135.1:g.10859C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.489C>G MANE Select	ENSP00000313432.6:p.Arg163=
ENST00000318158.10:c.489C>G	ENSP00000313432.6:p.Arg163=
ENST00000377824.8:n.526C>G
ENST00000460882.5:n.516C>G
ENST00000480596.5:n.31C>G
ENST00000491488.5:n.194C>G
ENST00000493368.5:n.546C>G
ENST00000497693.1:n.863C>G
ENST00000607784.1:c.489C>G	ENSP00000475569.1:p.Arg163=
NM_012203.1:c.489C>G	NP_036335.1:p.Arg163=
XM_005251631.1:c.168C>G	XP_005251688.1:p.Arg56=
XM_011518073.1:c.-274C>G	XP_011516375.1:n.-274C>G
XR_929374.1:n.574C>G
XM_017015320.2:c.489C>G	XP_016870809.1:p.Arg163=
XM_017015321.2:c.489C>G	XP_016870810.1:p.Arg163=
XM_017015323.2:c.-274C>G	XP_016870812.1:n.-274C>G
XM_024447716.1:c.762C>G	XP_024303484.1:p.Arg254=
XM_024447717.1:c.762C>G	XP_024303485.1:p.Arg254=
XR_002956828.1:n.777C>G
XR_002956829.1:n.777C>G
XR_002956830.1:n.548C>G
XR_002956831.1:n.223C>G
XR_002956832.1:n.548C>G
NM_012203.2:c.489C>G MANE Select	NP_036335.1:p.Arg163=