Canonical Allele Identifier: CA373442362

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 591504
• ClinVar RCV Id: RCV000722683 ; RCV003447157
• dbSNP Id: rs1564297234
• MyVariant Identifiers: chr9:g.37425993T>C (hg19) ; chr9:g.37425996T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37425996T>C , CM000671.2:g.37425996T>C	GRCh38
NC_000009.11:g.37425993T>C , CM000671.1:g.37425993T>C	GRCh37
NC_000009.10:g.37415993T>C	NCBI36
NG_008135.1:g.8287T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.287+2T>C MANE Select	ENSP00000313432.6:n.287+2T>C
ENST00000318158.10:c.287+2T>C	ENSP00000313432.6:n.287+2T>C
ENST00000377824.8:n.324+2T>C
ENST00000460882.5:n.314+2T>C
ENST00000487399.5:n.298T>C
ENST00000491488.5:n.110-2488T>C
ENST00000493368.5:n.344+2T>C
ENST00000607784.1:c.287+2T>C	ENSP00000475569.1:n.287+2T>C
NM_012203.1:c.287+2T>C	NP_036335.1:n.287+2T>C
XM_005251631.1:c.84-2488T>C	XP_005251688.1:n.84-2488T>C
XM_011518073.1:c.-476+2T>C	XP_011516375.1:n.-476+2T>C
XR_929374.1:n.372+2T>C
XM_017015320.2:c.287+2T>C	XP_016870809.1:n.287+2T>C
XM_017015321.2:c.287+2T>C	XP_016870810.1:n.287+2T>C
XM_017015323.2:c.-476+2T>C	XP_016870812.1:n.-476+2T>C
XM_024447716.1:c.560+2T>C	XP_024303484.1:n.560+2T>C
XM_024447717.1:c.560+2T>C	XP_024303485.1:n.560+2T>C
XR_002956828.1:n.575+2T>C
XR_002956829.1:n.575+2T>C
XR_002956830.1:n.346+2T>C
XR_002956831.1:n.139-2488T>C
XR_002956832.1:n.346+2T>C
NM_012203.2:c.287+2T>C MANE Select	NP_036335.1:n.287+2T>C