Canonical Allele Identifier: CA465004082
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 795269
ClinVar RCV Id: RCV000978585
dbSNP Id: rs1588757565
gnomAD v4: 9-37429760-A-C
MyVariant Identifiers: chr9:g.37429757A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429760A>C , CM000671.2:g.37429760A>C GRCh38
NC_000009.11:g.37429757A>C , CM000671.1:g.37429757A>C GRCh37
NC_000009.10:g.37419757A>C NCBI36
NG_008135.1:g.12051A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.522A>C MANE Select ENSP00000313432.6:p.Pro174=
ENST00000318158.10:c.522A>C ENSP00000313432.6:p.Pro174=
ENST00000377824.8:n.559A>C
ENST00000460882.5:n.549A>C
ENST00000480596.5:n.1223A>C
ENST00000491488.5:n.227A>C
ENST00000494290.1:c.93A>C ENSP00000432021.1:p.Pro31=
ENST00000497693.1:n.2055A>C
ENST00000607784.1:c.522A>C ENSP00000475569.1:p.Pro174=
NM_012203.1:c.522A>C NP_036335.1:p.Pro174=
XM_005251631.1:c.201A>C XP_005251688.1:p.Pro67=
XM_011518073.1:c.120A>C XP_011516375.1:p.Pro40=
XR_929374.1:n.967A>C
XM_017015320.2:c.522A>C XP_016870809.1:p.Pro174=
XM_017015321.2:c.522A>C XP_016870810.1:p.Pro174=
XM_017015323.2:c.120A>C XP_016870812.1:p.Pro40=
XM_024447716.1:c.795A>C XP_024303484.1:p.Pro265=
XM_024447717.1:c.795A>C XP_024303485.1:p.Pro265=
XR_002956828.1:n.810A>C
XR_002956829.1:n.810A>C
XR_002956830.1:n.581A>C
XR_002956831.1:n.256A>C
XR_002956832.1:n.941A>C
NM_012203.2:c.522A>C MANE Select NP_036335.1:p.Pro174=