Canonical Allele Identifier: CA275895
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 204237
ClinVar RCV Id: RCV000186444
dbSNP Id: rs180177323
gnomAD v2: 9-37436697-G-A
gnomAD v3: 9-37436700-G-A
gnomAD v4: 9-37436700-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436700G>A , CM000671.2:g.37436700G>A GRCh38
NC_000009.11:g.37436697G>A , CM000671.1:g.37436697G>A GRCh37
NC_000009.10:g.37426697G>A NCBI36
NG_008135.1:g.18991G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.905G>A MANE Select ENSP00000313432.6:p.Arg302His
ENST00000318158.10:c.905G>A ENSP00000313432.6:p.Arg302His
ENST00000460882.5:n.932G>A
ENST00000480596.5:n.1606G>A
ENST00000494290.1:c.*52-181G>A ENSP00000432021.1:n.*52-181G>A
ENST00000497693.1:n.4473G>A
NM_012203.1:c.905G>A NP_036335.1:p.Arg302His
XM_005251631.1:c.584G>A XP_005251688.1:p.Arg195His
XM_011518073.1:c.503G>A XP_011516375.1:p.Arg168His
XM_017015320.2:c.946-711G>A XP_016870809.1:n.946-711G>A
XM_017015321.2:c.866-711G>A XP_016870810.1:n.866-711G>A
XM_017015323.2:c.544-711G>A XP_016870812.1:n.544-711G>A
XM_024447716.1:c.1219-711G>A XP_024303484.1:n.1219-711G>A
XM_024447717.1:c.1139-711G>A XP_024303485.1:n.1139-711G>A
XR_002956828.1:n.1234-711G>A
XR_002956829.1:n.1154-711G>A
XR_002956830.1:n.2325G>A
XR_002956831.1:n.2000G>A
XR_002956832.1:n.1324G>A
NM_012203.2:c.905G>A MANE Select NP_036335.1:p.Arg302His