Canonical Allele Identifier: CA373443471

Gene: GRHPR

Linked Data

• COSMIC: COSM422370
• MyVariant Identifiers: chr9:g.37429803G>C (hg19) ; chr9:g.37429806G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429806G>C , CM000671.2:g.37429806G>C	GRCh38
NC_000009.11:g.37429803G>C , CM000671.1:g.37429803G>C	GRCh37
NC_000009.10:g.37419803G>C	NCBI36
NG_008135.1:g.12097G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.568G>C MANE Select	ENSP00000313432.6:p.Glu190Gln
ENST00000318158.10:c.568G>C	ENSP00000313432.6:p.Glu190Gln
ENST00000377824.8:n.605G>C
ENST00000460882.5:n.595G>C
ENST00000480596.5:n.1269G>C
ENST00000482603.1:n.21G>C
ENST00000491488.5:n.273G>C
ENST00000494290.1:c.139G>C	ENSP00000432021.1:p.Glu47Gln
ENST00000497693.1:n.2101G>C
ENST00000607784.1:c.568G>C	ENSP00000475569.1:p.Glu190Gln
NM_012203.1:c.568G>C	NP_036335.1:p.Glu190Gln
XM_005251631.1:c.247G>C	XP_005251688.1:p.Glu83Gln
XM_011518073.1:c.166G>C	XP_011516375.1:p.Glu56Gln
XR_929374.1:n.1013G>C
XM_017015320.2:c.568G>C	XP_016870809.1:p.Glu190Gln
XM_017015321.2:c.568G>C	XP_016870810.1:p.Glu190Gln
XM_017015323.2:c.166G>C	XP_016870812.1:p.Glu56Gln
XM_024447716.1:c.841G>C	XP_024303484.1:p.Glu281Gln
XM_024447717.1:c.841G>C	XP_024303485.1:p.Glu281Gln
XR_002956828.1:n.856G>C
XR_002956829.1:n.856G>C
XR_002956830.1:n.627G>C
XR_002956831.1:n.302G>C
XR_002956832.1:n.987G>C
NM_012203.2:c.568G>C MANE Select	NP_036335.1:p.Glu190Gln