Canonical Allele Identifier: CA5059144

Gene: GRHPR

Linked Data

• dbSNP Id: rs755995624
• ExAC: 9:37429798 G / C
• gnomAD v2: 9-37429798-G-C
• gnomAD v4: 9-37429801-G-C
• MyVariant Identifiers: chr9:g.37429798G>C (hg19) ; chr9:g.37429801G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.563G>C MANE Select	ENSP00000313432.6:p.Arg188Thr
ENST00000318158.10:c.563G>C	ENSP00000313432.6:p.Arg188Thr
ENST00000377824.8:n.600G>C
ENST00000460882.5:n.590G>C
ENST00000480596.5:n.1264G>C
ENST00000482603.1:n.16G>C
ENST00000491488.5:n.268G>C
ENST00000494290.1:c.134G>C	ENSP00000432021.1:p.Arg45Thr
ENST00000497693.1:n.2096G>C
ENST00000607784.1:c.563G>C	ENSP00000475569.1:p.Arg188Thr
NM_012203.1:c.563G>C	NP_036335.1:p.Arg188Thr
XM_005251631.1:c.242G>C	XP_005251688.1:p.Arg81Thr
XM_011518073.1:c.161G>C	XP_011516375.1:p.Arg54Thr
XR_929374.1:n.1008G>C
XM_017015320.2:c.563G>C	XP_016870809.1:p.Arg188Thr
XM_017015321.2:c.563G>C	XP_016870810.1:p.Arg188Thr
XM_017015323.2:c.161G>C	XP_016870812.1:p.Arg54Thr
XM_024447716.1:c.836G>C	XP_024303484.1:p.Arg279Thr
XM_024447717.1:c.836G>C	XP_024303485.1:p.Arg279Thr
XR_002956828.1:n.851G>C
XR_002956829.1:n.851G>C
XR_002956830.1:n.622G>C
XR_002956831.1:n.297G>C
XR_002956832.1:n.982G>C
NM_012203.2:c.563G>C MANE Select	NP_036335.1:p.Arg188Thr