Canonical Allele Identifier: CA465003923

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 755644
• ClinVar RCV Id: RCV000933084
• dbSNP Id: rs151336686
• MyVariant Identifiers: chr9:g.37426628G>T (hg19)

Genomic Alleles

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

Transcript Alleles

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