Canonical Allele Identifier: CA5059062

Gene: GRHPR

Linked Data

• dbSNP Id: rs774233908
• ExAC: 9:37428545 G / C
• gnomAD v2: 9-37428545-G-C
• gnomAD v4: 9-37428548-G-C
• MyVariant Identifiers: chr9:g.37428545G>C (hg19) ; chr9:g.37428548G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428548G>C , CM000671.2:g.37428548G>C	GRCh38
NC_000009.11:g.37428545G>C , CM000671.1:g.37428545G>C	GRCh37
NC_000009.10:g.37418545G>C	NCBI36
NG_008135.1:g.10839G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.469G>C MANE Select	ENSP00000313432.6:p.Gly157Arg
ENST00000318158.10:c.469G>C	ENSP00000313432.6:p.Gly157Arg
ENST00000377824.8:n.506G>C
ENST00000460882.5:n.496G>C
ENST00000480596.5:n.11G>C
ENST00000491488.5:n.174G>C
ENST00000493368.5:n.526G>C
ENST00000497693.1:n.843G>C
ENST00000607784.1:c.469G>C	ENSP00000475569.1:p.Gly157Arg
NM_012203.1:c.469G>C	NP_036335.1:p.Gly157Arg
XM_005251631.1:c.148G>C	XP_005251688.1:p.Gly50Arg
XM_011518073.1:c.-294G>C	XP_011516375.1:n.-294G>C
XR_929374.1:n.554G>C
XM_017015320.2:c.469G>C	XP_016870809.1:p.Gly157Arg
XM_017015321.2:c.469G>C	XP_016870810.1:p.Gly157Arg
XM_017015323.2:c.-294G>C	XP_016870812.1:n.-294G>C
XM_024447716.1:c.742G>C	XP_024303484.1:p.Gly248Arg
XM_024447717.1:c.742G>C	XP_024303485.1:p.Gly248Arg
XR_002956828.1:n.757G>C
XR_002956829.1:n.757G>C
XR_002956830.1:n.528G>C
XR_002956831.1:n.203G>C
XR_002956832.1:n.528G>C
NM_012203.2:c.469G>C MANE Select	NP_036335.1:p.Gly157Arg