Canonical Allele Identifier: CA275887

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 204233
• ClinVar RCV Id: RCV000186440
• dbSNP Id: rs796052078
• MyVariant Identifiers: chr9:g.37425991G>T (hg19) ; chr9:g.37425994G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37425994G>T , CM000671.2:g.37425994G>T	GRCh38
NC_000009.11:g.37425991G>T , CM000671.1:g.37425991G>T	GRCh37
NC_000009.10:g.37415991G>T	NCBI36
NG_008135.1:g.8285G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.287G>T MANE Select	ENSP00000313432.6:p.Arg96Leu
ENST00000318158.10:c.287G>T	ENSP00000313432.6:p.Arg96Leu
ENST00000377824.8:n.324G>T
ENST00000460882.5:n.314G>T
ENST00000487399.5:n.296G>T
ENST00000491488.5:n.110-2490G>T
ENST00000493368.5:n.344G>T
ENST00000607784.1:c.287G>T	ENSP00000475569.1:p.Arg96Leu
NM_012203.1:c.287G>T	NP_036335.1:p.Arg96Leu
XM_005251631.1:c.84-2490G>T	XP_005251688.1:n.84-2490G>T
XM_011518073.1:c.-476G>T	XP_011516375.1:n.-476G>T
XR_929374.1:n.372G>T
XM_017015320.2:c.287G>T	XP_016870809.1:p.Arg96Leu
XM_017015321.2:c.287G>T	XP_016870810.1:p.Arg96Leu
XM_017015323.2:c.-476G>T	XP_016870812.1:n.-476G>T
XM_024447716.1:c.560G>T	XP_024303484.1:p.Arg187Leu
XM_024447717.1:c.560G>T	XP_024303485.1:p.Arg187Leu
XR_002956828.1:n.575G>T
XR_002956829.1:n.575G>T
XR_002956830.1:n.346G>T
XR_002956831.1:n.139-2490G>T
XR_002956832.1:n.346G>T
NM_012203.2:c.287G>T MANE Select	NP_036335.1:p.Arg96Leu