Canonical Allele Identifier: CA465004005

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2021514
• ClinVar RCV Id: RCV002862710
• MyVariant Identifiers: chr9:g.37428559G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428562G>A , CM000671.2:g.37428562G>A	GRCh38
NC_000009.11:g.37428559G>A , CM000671.1:g.37428559G>A	GRCh37
NC_000009.10:g.37418559G>A	NCBI36
NG_008135.1:g.10853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.483G>A MANE Select	ENSP00000313432.6:p.Leu161=
ENST00000318158.10:c.483G>A	ENSP00000313432.6:p.Leu161=
ENST00000377824.8:n.520G>A
ENST00000460882.5:n.510G>A
ENST00000480596.5:n.25G>A
ENST00000491488.5:n.188G>A
ENST00000493368.5:n.540G>A
ENST00000497693.1:n.857G>A
ENST00000607784.1:c.483G>A	ENSP00000475569.1:p.Leu161=
NM_012203.1:c.483G>A	NP_036335.1:p.Leu161=
XM_005251631.1:c.162G>A	XP_005251688.1:p.Leu54=
XM_011518073.1:c.-280G>A	XP_011516375.1:n.-280G>A
XR_929374.1:n.568G>A
XM_017015320.2:c.483G>A	XP_016870809.1:p.Leu161=
XM_017015321.2:c.483G>A	XP_016870810.1:p.Leu161=
XM_017015323.2:c.-280G>A	XP_016870812.1:n.-280G>A
XM_024447716.1:c.756G>A	XP_024303484.1:p.Leu252=
XM_024447717.1:c.756G>A	XP_024303485.1:p.Leu252=
XR_002956828.1:n.771G>A
XR_002956829.1:n.771G>A
XR_002956830.1:n.542G>A
XR_002956831.1:n.217G>A
XR_002956832.1:n.542G>A
NM_012203.2:c.483G>A MANE Select	NP_036335.1:p.Leu161=