Canonical Allele Identifier: CA465004293

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2806379
• ClinVar RCV Id: RCV003679718
• gnomAD v4: 9-37432026-G-A
• MyVariant Identifiers: chr9:g.37432023G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432026G>A , CM000671.2:g.37432026G>A	GRCh38
NC_000009.11:g.37432023G>A , CM000671.1:g.37432023G>A	GRCh37
NC_000009.10:g.37422023G>A	NCBI36
NG_008135.1:g.14317G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.753G>A MANE Select	ENSP00000313432.6:p.Gln251=
ENST00000318158.10:c.753G>A	ENSP00000313432.6:p.Gln251=
ENST00000460882.5:n.780G>A
ENST00000480596.5:n.1454G>A
ENST00000482603.1:n.206G>A
ENST00000491488.5:n.458G>A
ENST00000494290.1:c.*51+875G>A	ENSP00000432021.1:n.*51+875G>A
ENST00000497693.1:n.4321G>A
ENST00000607784.1:c.753G>A	ENSP00000475569.1:p.Gln251=
NM_012203.1:c.753G>A	NP_036335.1:p.Gln251=
XM_005251631.1:c.432G>A	XP_005251688.1:p.Gln144=
XM_011518073.1:c.351G>A	XP_011516375.1:p.Gln117=
XM_017015320.2:c.753G>A	XP_016870809.1:p.Gln251=
XM_017015321.2:c.753G>A	XP_016870810.1:p.Gln251=
XM_017015323.2:c.351G>A	XP_016870812.1:p.Gln117=
XM_024447716.1:c.1026G>A	XP_024303484.1:p.Gln342=
XM_024447717.1:c.1026G>A	XP_024303485.1:p.Gln342=
XR_002956828.1:n.1041G>A
XR_002956829.1:n.1041G>A
XR_002956830.1:n.2173G>A
XR_002956831.1:n.1848G>A
XR_002956832.1:n.1172G>A
NM_012203.2:c.753G>A MANE Select	NP_036335.1:p.Gln251=