Canonical Allele Identifier: CA373443453

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429801-G-A
• MyVariant Identifiers: chr9:g.37429798G>A (hg19) ; chr9:g.37429801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429801G>A , CM000671.2:g.37429801G>A	GRCh38
NC_000009.11:g.37429798G>A , CM000671.1:g.37429798G>A	GRCh37
NC_000009.10:g.37419798G>A	NCBI36
NG_008135.1:g.12092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.563G>A MANE Select	ENSP00000313432.6:p.Arg188Lys
ENST00000318158.10:c.563G>A	ENSP00000313432.6:p.Arg188Lys
ENST00000377824.8:n.600G>A
ENST00000460882.5:n.590G>A
ENST00000480596.5:n.1264G>A
ENST00000482603.1:n.16G>A
ENST00000491488.5:n.268G>A
ENST00000494290.1:c.134G>A	ENSP00000432021.1:p.Arg45Lys
ENST00000497693.1:n.2096G>A
ENST00000607784.1:c.563G>A	ENSP00000475569.1:p.Arg188Lys
NM_012203.1:c.563G>A	NP_036335.1:p.Arg188Lys
XM_005251631.1:c.242G>A	XP_005251688.1:p.Arg81Lys
XM_011518073.1:c.161G>A	XP_011516375.1:p.Arg54Lys
XR_929374.1:n.1008G>A
XM_017015320.2:c.563G>A	XP_016870809.1:p.Arg188Lys
XM_017015321.2:c.563G>A	XP_016870810.1:p.Arg188Lys
XM_017015323.2:c.161G>A	XP_016870812.1:p.Arg54Lys
XM_024447716.1:c.836G>A	XP_024303484.1:p.Arg279Lys
XM_024447717.1:c.836G>A	XP_024303485.1:p.Arg279Lys
XR_002956828.1:n.851G>A
XR_002956829.1:n.851G>A
XR_002956830.1:n.622G>A
XR_002956831.1:n.297G>A
XR_002956832.1:n.982G>A
NM_012203.2:c.563G>A MANE Select	NP_036335.1:p.Arg188Lys