Canonical Allele Identifier: CA5059132

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 3102302
• ClinVar RCV Id: RCV004393711
• dbSNP Id: rs767940909
• ExAC: 9:37429737 A / G
• gnomAD v2: 9-37429737-A-G
• gnomAD v4: 9-37429740-A-G
• MyVariant Identifiers: chr9:g.37429737A>G (hg19) ; chr9:g.37429740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429740A>G , CM000671.2:g.37429740A>G	GRCh38
NC_000009.11:g.37429737A>G , CM000671.1:g.37429737A>G	GRCh37
NC_000009.10:g.37419737A>G	NCBI36
NG_008135.1:g.12031A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.502A>G MANE Select	ENSP00000313432.6:p.Ile168Val
ENST00000318158.10:c.502A>G	ENSP00000313432.6:p.Ile168Val
ENST00000377824.8:n.539A>G
ENST00000460882.5:n.529A>G
ENST00000480596.5:n.1203A>G
ENST00000491488.5:n.207A>G
ENST00000494290.1:c.73A>G	ENSP00000432021.1:p.Ile25Val
ENST00000497693.1:n.2035A>G
ENST00000607784.1:c.502A>G	ENSP00000475569.1:p.Ile168Val
NM_012203.1:c.502A>G	NP_036335.1:p.Ile168Val
XM_005251631.1:c.181A>G	XP_005251688.1:p.Ile61Val
XM_011518073.1:c.100A>G	XP_011516375.1:p.Ile34Val
XR_929374.1:n.947A>G
XM_017015320.2:c.502A>G	XP_016870809.1:p.Ile168Val
XM_017015321.2:c.502A>G	XP_016870810.1:p.Ile168Val
XM_017015323.2:c.100A>G	XP_016870812.1:p.Ile34Val
XM_024447716.1:c.775A>G	XP_024303484.1:p.Ile259Val
XM_024447717.1:c.775A>G	XP_024303485.1:p.Ile259Val
XR_002956828.1:n.790A>G
XR_002956829.1:n.790A>G
XR_002956830.1:n.561A>G
XR_002956831.1:n.236A>G
XR_002956832.1:n.921A>G
NM_012203.2:c.502A>G MANE Select	NP_036335.1:p.Ile168Val