Canonical Allele Identifier: CA465003784

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1140335
• ClinVar RCV Id: RCV001477396
• dbSNP Id: rs1324288158
• gnomAD v2: 9-37424965-T-C
• gnomAD v3: 9-37424968-T-C
• gnomAD v4: 9-37424968-T-C
• MyVariant Identifiers: chr9:g.37424965T>C (hg19) ; chr9:g.37424968T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424968T>C , CM000671.2:g.37424968T>C	GRCh38
NC_000009.11:g.37424965T>C , CM000671.1:g.37424965T>C	GRCh37
NC_000009.10:g.37414965T>C	NCBI36
NG_008135.1:g.7259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.207T>C MANE Select	ENSP00000313432.6:p.Asp69=
ENST00000318158.10:c.207T>C	ENSP00000313432.6:p.Asp69=
ENST00000377824.8:n.244T>C
ENST00000460882.5:n.234T>C
ENST00000487399.5:n.216T>C
ENST00000491488.5:n.109+2135T>C
ENST00000493368.5:n.264T>C
ENST00000607784.1:c.207T>C	ENSP00000475569.1:p.Asp69=
NM_012203.1:c.207T>C	NP_036335.1:p.Asp69=
XM_005251631.1:c.83+2135T>C	XP_005251688.1:n.83+2135T>C
XM_011518073.1:c.-556T>C	XP_011516375.1:n.-556T>C
XR_929374.1:n.292T>C
XM_017015320.2:c.207T>C	XP_016870809.1:p.Asp69=
XM_017015321.2:c.207T>C	XP_016870810.1:p.Asp69=
XM_017015323.2:c.-556T>C	XP_016870812.1:n.-556T>C
XM_024447716.1:c.480T>C	XP_024303484.1:p.Asp160=
XM_024447717.1:c.480T>C	XP_024303485.1:p.Asp160=
XR_002956828.1:n.495T>C
XR_002956829.1:n.495T>C
XR_002956830.1:n.266T>C
XR_002956831.1:n.138+2135T>C
XR_002956832.1:n.266T>C
NM_012203.2:c.207T>C MANE Select	NP_036335.1:p.Asp69=