Canonical Allele Identifier: CA465004292

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2763445
• ClinVar RCV Id: RCV003565092
• MyVariant Identifiers: chr9:g.37432020C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432023C>T , CM000671.2:g.37432023C>T	GRCh38
NC_000009.11:g.37432020C>T , CM000671.1:g.37432020C>T	GRCh37
NC_000009.10:g.37422020C>T	NCBI36
NG_008135.1:g.14314C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.750C>T MANE Select	ENSP00000313432.6:p.Asn250=
ENST00000318158.10:c.750C>T	ENSP00000313432.6:p.Asn250=
ENST00000460882.5:n.777C>T
ENST00000480596.5:n.1451C>T
ENST00000482603.1:n.203C>T
ENST00000491488.5:n.455C>T
ENST00000494290.1:c.*51+872C>T	ENSP00000432021.1:n.*51+872C>T
ENST00000497693.1:n.4318C>T
ENST00000607784.1:c.750C>T	ENSP00000475569.1:p.Asn250=
NM_012203.1:c.750C>T	NP_036335.1:p.Asn250=
XM_005251631.1:c.429C>T	XP_005251688.1:p.Asn143=
XM_011518073.1:c.348C>T	XP_011516375.1:p.Asn116=
XM_017015320.2:c.750C>T	XP_016870809.1:p.Asn250=
XM_017015321.2:c.750C>T	XP_016870810.1:p.Asn250=
XM_017015323.2:c.348C>T	XP_016870812.1:p.Asn116=
XM_024447716.1:c.1023C>T	XP_024303484.1:p.Asn341=
XM_024447717.1:c.1023C>T	XP_024303485.1:p.Asn341=
XR_002956828.1:n.1038C>T
XR_002956829.1:n.1038C>T
XR_002956830.1:n.2170C>T
XR_002956831.1:n.1845C>T
XR_002956832.1:n.1169C>T
NM_012203.2:c.750C>T MANE Select	NP_036335.1:p.Asn250=