Canonical Allele Identifier: CA373443274

Gene: GRHPR

Linked Data

• dbSNP Id: rs12002324
• gnomAD v4: 9-37429747-G-C
• MyVariant Identifiers: chr9:g.37429744G>C (hg19) ; chr9:g.37429747G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429747G>C , CM000671.2:g.37429747G>C	GRCh38
NC_000009.11:g.37429744G>C , CM000671.1:g.37429744G>C	GRCh37
NC_000009.10:g.37419744G>C	NCBI36
NG_008135.1:g.12038G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.509G>C MANE Select	ENSP00000313432.6:p.Arg170Pro
ENST00000318158.10:c.509G>C	ENSP00000313432.6:p.Arg170Pro
ENST00000377824.8:n.546G>C
ENST00000460882.5:n.536G>C
ENST00000480596.5:n.1210G>C
ENST00000491488.5:n.214G>C
ENST00000494290.1:c.80G>C	ENSP00000432021.1:p.Arg27Pro
ENST00000497693.1:n.2042G>C
ENST00000607784.1:c.509G>C	ENSP00000475569.1:p.Arg170Pro
NM_012203.1:c.509G>C	NP_036335.1:p.Arg170Pro
XM_005251631.1:c.188G>C	XP_005251688.1:p.Arg63Pro
XM_011518073.1:c.107G>C	XP_011516375.1:p.Arg36Pro
XR_929374.1:n.954G>C
XM_017015320.2:c.509G>C	XP_016870809.1:p.Arg170Pro
XM_017015321.2:c.509G>C	XP_016870810.1:p.Arg170Pro
XM_017015323.2:c.107G>C	XP_016870812.1:p.Arg36Pro
XM_024447716.1:c.782G>C	XP_024303484.1:p.Arg261Pro
XM_024447717.1:c.782G>C	XP_024303485.1:p.Arg261Pro
XR_002956828.1:n.797G>C
XR_002956829.1:n.797G>C
XR_002956830.1:n.568G>C
XR_002956831.1:n.243G>C
XR_002956832.1:n.928G>C
NM_012203.2:c.509G>C MANE Select	NP_036335.1:p.Arg170Pro