Canonical Allele Identifier: CA465006797

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 797213
• ClinVar RCV Id: RCV000980656
• dbSNP Id: rs1588768342
• MyVariant Identifiers: chr9:g.37436662T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436665T>C , CM000671.2:g.37436665T>C	GRCh38
NC_000009.11:g.37436662T>C , CM000671.1:g.37436662T>C	GRCh37
NC_000009.10:g.37426662T>C	NCBI36
NG_008135.1:g.18956T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.870T>C MANE Select	ENSP00000313432.6:p.Ile290=
ENST00000318158.10:c.870T>C	ENSP00000313432.6:p.Ile290=
ENST00000460882.5:n.897T>C
ENST00000480596.5:n.1571T>C
ENST00000491488.5:n.575T>C
ENST00000494290.1:c.*52-216T>C	ENSP00000432021.1:n.*52-216T>C
ENST00000497693.1:n.4438T>C
NM_012203.1:c.870T>C	NP_036335.1:p.Ile290=
XM_005251631.1:c.549T>C	XP_005251688.1:p.Ile183=
XM_011518073.1:c.468T>C	XP_011516375.1:p.Ile156=
XM_017015320.2:c.946-746T>C	XP_016870809.1:n.946-746T>C
XM_017015321.2:c.866-746T>C	XP_016870810.1:n.866-746T>C
XM_017015323.2:c.544-746T>C	XP_016870812.1:n.544-746T>C
XM_024447716.1:c.1219-746T>C	XP_024303484.1:n.1219-746T>C
XM_024447717.1:c.1139-746T>C	XP_024303485.1:n.1139-746T>C
XR_002956828.1:n.1234-746T>C
XR_002956829.1:n.1154-746T>C
XR_002956830.1:n.2290T>C
XR_002956831.1:n.1965T>C
XR_002956832.1:n.1289T>C
NM_012203.2:c.870T>C MANE Select	NP_036335.1:p.Ile290=