Canonical Allele Identifier: CA192896250

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 551151
• ClinVar RCV Id: RCV000666135
• dbSNP Id: rs200632069
• MyVariant Identifiers: chr9:g.37436681G>A (hg19) ; chr9:g.37436684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436684G>A , CM000671.2:g.37436684G>A	GRCh38
NC_000009.11:g.37436681G>A , CM000671.1:g.37436681G>A	GRCh37
NC_000009.10:g.37426681G>A	NCBI36
NG_008135.1:g.18975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.889G>A MANE Select	ENSP00000313432.6:p.Ala297Thr
ENST00000318158.10:c.889G>A	ENSP00000313432.6:p.Ala297Thr
ENST00000460882.5:n.916G>A
ENST00000480596.5:n.1590G>A
ENST00000491488.5:n.594G>A
ENST00000494290.1:c.*52-197G>A	ENSP00000432021.1:n.*52-197G>A
ENST00000497693.1:n.4457G>A
NM_012203.1:c.889G>A	NP_036335.1:p.Ala297Thr
XM_005251631.1:c.568G>A	XP_005251688.1:p.Ala190Thr
XM_011518073.1:c.487G>A	XP_011516375.1:p.Ala163Thr
XM_017015320.2:c.946-727G>A	XP_016870809.1:n.946-727G>A
XM_017015321.2:c.866-727G>A	XP_016870810.1:n.866-727G>A
XM_017015323.2:c.544-727G>A	XP_016870812.1:n.544-727G>A
XM_024447716.1:c.1219-727G>A	XP_024303484.1:n.1219-727G>A
XM_024447717.1:c.1139-727G>A	XP_024303485.1:n.1139-727G>A
XR_002956828.1:n.1234-727G>A
XR_002956829.1:n.1154-727G>A
XR_002956830.1:n.2309G>A
XR_002956831.1:n.1984G>A
XR_002956832.1:n.1308G>A
NM_012203.2:c.889G>A MANE Select	NP_036335.1:p.Ala297Thr