Canonical Allele Identifier: CA5058994

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 944174
• ClinVar RCV Id: RCV001214516
• dbSNP Id: rs201553816
• ExAC: 9:37426535 T / C
• gnomAD v2: 9-37426535-T-C
• gnomAD v3: 9-37426538-T-C
• gnomAD v4: 9-37426538-T-C
• MyVariant Identifiers: chr9:g.37426535T>C (hg19) ; chr9:g.37426538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426538T>C , CM000671.2:g.37426538T>C	GRCh38
NC_000009.11:g.37426535T>C , CM000671.1:g.37426535T>C	GRCh37
NC_000009.10:g.37416535T>C	NCBI36
NG_008135.1:g.8829T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.288T>C MANE Select	ENSP00000313432.6:p.Arg96=
ENST00000318158.10:c.288T>C	ENSP00000313432.6:p.Arg96=
ENST00000377824.8:n.325T>C
ENST00000460882.5:n.315T>C
ENST00000487399.5:n.840T>C
ENST00000491488.5:n.110-1946T>C
ENST00000493368.5:n.345T>C
ENST00000607784.1:c.288T>C	ENSP00000475569.1:p.Arg96=
NM_012203.1:c.288T>C	NP_036335.1:p.Arg96=
XM_005251631.1:c.84-1946T>C	XP_005251688.1:n.84-1946T>C
XM_011518073.1:c.-475T>C	XP_011516375.1:n.-475T>C
XR_929374.1:n.373T>C
XM_017015320.2:c.288T>C	XP_016870809.1:p.Arg96=
XM_017015321.2:c.288T>C	XP_016870810.1:p.Arg96=
XM_017015323.2:c.-475T>C	XP_016870812.1:n.-475T>C
XM_024447716.1:c.561T>C	XP_024303484.1:p.Arg187=
XM_024447717.1:c.561T>C	XP_024303485.1:p.Arg187=
XR_002956828.1:n.576T>C
XR_002956829.1:n.576T>C
XR_002956830.1:n.347T>C
XR_002956831.1:n.139-1946T>C
XR_002956832.1:n.347T>C
NM_012203.2:c.288T>C MANE Select	NP_036335.1:p.Arg96=