Canonical Allele Identifier: CA373443272

Gene: GRHPR

Linked Data

• dbSNP Id: rs1473836715
• gnomAD v3: 9-37429746-C-T
• gnomAD v4: 9-37429746-C-T
• MyVariant Identifiers: chr9:g.37429743C>T (hg19) ; chr9:g.37429746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429746C>T , CM000671.2:g.37429746C>T	GRCh38
NC_000009.11:g.37429743C>T , CM000671.1:g.37429743C>T	GRCh37
NC_000009.10:g.37419743C>T	NCBI36
NG_008135.1:g.12037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.508C>T MANE Select	ENSP00000313432.6:p.Arg170Trp
ENST00000318158.10:c.508C>T	ENSP00000313432.6:p.Arg170Trp
ENST00000377824.8:n.545C>T
ENST00000460882.5:n.535C>T
ENST00000480596.5:n.1209C>T
ENST00000491488.5:n.213C>T
ENST00000494290.1:c.79C>T	ENSP00000432021.1:p.Arg27Trp
ENST00000497693.1:n.2041C>T
ENST00000607784.1:c.508C>T	ENSP00000475569.1:p.Arg170Trp
NM_012203.1:c.508C>T	NP_036335.1:p.Arg170Trp
XM_005251631.1:c.187C>T	XP_005251688.1:p.Arg63Trp
XM_011518073.1:c.106C>T	XP_011516375.1:p.Arg36Trp
XR_929374.1:n.953C>T
XM_017015320.2:c.508C>T	XP_016870809.1:p.Arg170Trp
XM_017015321.2:c.508C>T	XP_016870810.1:p.Arg170Trp
XM_017015323.2:c.106C>T	XP_016870812.1:p.Arg36Trp
XM_024447716.1:c.781C>T	XP_024303484.1:p.Arg261Trp
XM_024447717.1:c.781C>T	XP_024303485.1:p.Arg261Trp
XR_002956828.1:n.796C>T
XR_002956829.1:n.796C>T
XR_002956830.1:n.567C>T
XR_002956831.1:n.242C>T
XR_002956832.1:n.927C>T
NM_012203.2:c.508C>T MANE Select	NP_036335.1:p.Arg170Trp