Canonical Allele Identifier: CA373445365

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2573564
• ClinVar RCV Id: RCV003317900 ; RCV003445232
• MyVariant Identifiers: chr9:g.37436697G>C (hg19) ; chr9:g.37436700G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436700G>C , CM000671.2:g.37436700G>C	GRCh38
NC_000009.11:g.37436697G>C , CM000671.1:g.37436697G>C	GRCh37
NC_000009.10:g.37426697G>C	NCBI36
NG_008135.1:g.18991G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.905G>C MANE Select	ENSP00000313432.6:p.Arg302Pro
ENST00000318158.10:c.905G>C	ENSP00000313432.6:p.Arg302Pro
ENST00000460882.5:n.932G>C
ENST00000480596.5:n.1606G>C
ENST00000494290.1:c.*52-181G>C	ENSP00000432021.1:n.*52-181G>C
ENST00000497693.1:n.4473G>C
NM_012203.1:c.905G>C	NP_036335.1:p.Arg302Pro
XM_005251631.1:c.584G>C	XP_005251688.1:p.Arg195Pro
XM_011518073.1:c.503G>C	XP_011516375.1:p.Arg168Pro
XM_017015320.2:c.946-711G>C	XP_016870809.1:n.946-711G>C
XM_017015321.2:c.866-711G>C	XP_016870810.1:n.866-711G>C
XM_017015323.2:c.544-711G>C	XP_016870812.1:n.544-711G>C
XM_024447716.1:c.1219-711G>C	XP_024303484.1:n.1219-711G>C
XM_024447717.1:c.1139-711G>C	XP_024303485.1:n.1139-711G>C
XR_002956828.1:n.1234-711G>C
XR_002956829.1:n.1154-711G>C
XR_002956830.1:n.2325G>C
XR_002956831.1:n.2000G>C
XR_002956832.1:n.1324G>C
NM_012203.2:c.905G>C MANE Select	NP_036335.1:p.Arg302Pro