Canonical Allele Identifier: CA192894360

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2671864
• ClinVar RCV Id: RCV003448963
• dbSNP Id: rs369698939
• gnomAD v2: 9-37432076-A-G
• gnomAD v3: 9-37432079-A-G
• gnomAD v4: 9-37432079-A-G
• MyVariant Identifiers: chr9:g.37432076A>G (hg19) ; chr9:g.37432079A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432079A>G , CM000671.2:g.37432079A>G	GRCh38
NC_000009.11:g.37432076A>G , CM000671.1:g.37432076A>G	GRCh37
NC_000009.10:g.37422076A>G	NCBI36
NG_008135.1:g.14370A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.806A>G MANE Select	ENSP00000313432.6:p.Asp269Gly
ENST00000318158.10:c.806A>G	ENSP00000313432.6:p.Asp269Gly
ENST00000460882.5:n.833A>G
ENST00000480596.5:n.1507A>G
ENST00000482603.1:n.259A>G
ENST00000491488.5:n.511A>G
ENST00000494290.1:c.*51+928A>G	ENSP00000432021.1:n.*51+928A>G
ENST00000497693.1:n.4374A>G
ENST00000607784.1:c.806A>G	ENSP00000475569.1:p.Asp269Gly
NM_012203.1:c.806A>G	NP_036335.1:p.Asp269Gly
XM_005251631.1:c.485A>G	XP_005251688.1:p.Asp162Gly
XM_011518073.1:c.404A>G	XP_011516375.1:p.Asp135Gly
XM_017015320.2:c.806A>G	XP_016870809.1:p.Asp269Gly
XM_017015321.2:c.806A>G	XP_016870810.1:p.Asp269Gly
XM_017015323.2:c.404A>G	XP_016870812.1:p.Asp135Gly
XM_024447716.1:c.1079A>G	XP_024303484.1:p.Asp360Gly
XM_024447717.1:c.1079A>G	XP_024303485.1:p.Asp360Gly
XR_002956828.1:n.1094A>G
XR_002956829.1:n.1094A>G
XR_002956830.1:n.2226A>G
XR_002956831.1:n.1901A>G
XR_002956832.1:n.1225A>G
NM_012203.2:c.806A>G MANE Select	NP_036335.1:p.Asp269Gly