Canonical Allele Identifier: CA465004069
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1473836715
gnomAD v2: 9-37429743-C-A
gnomAD v3: 9-37429746-C-A
gnomAD v4: 9-37429746-C-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.508C>A MANE Select ENSP00000313432.6:p.Arg170=
ENST00000318158.10:c.508C>A ENSP00000313432.6:p.Arg170=
ENST00000377824.8:n.545C>A
ENST00000460882.5:n.535C>A
ENST00000480596.5:n.1209C>A
ENST00000491488.5:n.213C>A
ENST00000494290.1:c.79C>A ENSP00000432021.1:p.Arg27=
ENST00000497693.1:n.2041C>A
ENST00000607784.1:c.508C>A ENSP00000475569.1:p.Arg170=
NM_012203.1:c.508C>A NP_036335.1:p.Arg170=
XM_005251631.1:c.187C>A XP_005251688.1:p.Arg63=
XM_011518073.1:c.106C>A XP_011516375.1:p.Arg36=
XR_929374.1:n.953C>A
XM_017015320.2:c.508C>A XP_016870809.1:p.Arg170=
XM_017015321.2:c.508C>A XP_016870810.1:p.Arg170=
XM_017015323.2:c.106C>A XP_016870812.1:p.Arg36=
XM_024447716.1:c.781C>A XP_024303484.1:p.Arg261=
XM_024447717.1:c.781C>A XP_024303485.1:p.Arg261=
XR_002956828.1:n.796C>A
XR_002956829.1:n.796C>A
XR_002956830.1:n.567C>A
XR_002956831.1:n.242C>A
XR_002956832.1:n.927C>A
NM_012203.2:c.508C>A MANE Select NP_036335.1:p.Arg170=