Canonical Allele Identifier: CA5059024

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1149142
• ClinVar RCV Id: RCV001489274 ; RCV001832637
• dbSNP Id: rs151336686
• ExAC: 9:37426628 G / A
• gnomAD v2: 9-37426628-G-A
• gnomAD v3: 9-37426631-G-A
• gnomAD v4: 9-37426631-G-A
• MyVariant Identifiers: chr9:g.37426628G>A (hg19) ; chr9:g.37426631G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426631G>A , CM000671.2:g.37426631G>A	GRCh38
NC_000009.11:g.37426628G>A , CM000671.1:g.37426628G>A	GRCh37
NC_000009.10:g.37416628G>A	NCBI36
NG_008135.1:g.8922G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.381G>A MANE Select	ENSP00000313432.6:p.Pro127=
ENST00000318158.10:c.381G>A	ENSP00000313432.6:p.Pro127=
ENST00000377824.8:n.418G>A
ENST00000460882.5:n.408G>A
ENST00000487399.5:n.933G>A
ENST00000491488.5:n.110-1853G>A
ENST00000493368.5:n.438G>A
ENST00000607784.1:c.381G>A	ENSP00000475569.1:p.Pro127=
NM_012203.1:c.381G>A	NP_036335.1:p.Pro127=
XM_005251631.1:c.84-1853G>A	XP_005251688.1:n.84-1853G>A
XM_011518073.1:c.-382G>A	XP_011516375.1:n.-382G>A
XR_929374.1:n.466G>A
XM_017015320.2:c.381G>A	XP_016870809.1:p.Pro127=
XM_017015321.2:c.381G>A	XP_016870810.1:p.Pro127=
XM_017015323.2:c.-382G>A	XP_016870812.1:n.-382G>A
XM_024447716.1:c.654G>A	XP_024303484.1:p.Pro218=
XM_024447717.1:c.654G>A	XP_024303485.1:p.Pro218=
XR_002956828.1:n.669G>A
XR_002956829.1:n.669G>A
XR_002956830.1:n.440G>A
XR_002956831.1:n.139-1853G>A
XR_002956832.1:n.440G>A
NM_012203.2:c.381G>A MANE Select	NP_036335.1:p.Pro127=