Canonical Allele Identifier: CA373443535
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429821T>G , CM000671.2:g.37429821T>G GRCh38
NC_000009.11:g.37429818T>G , CM000671.1:g.37429818T>G GRCh37
NC_000009.10:g.37419818T>G NCBI36
NG_008135.1:g.12112T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.583T>G MANE Select ENSP00000313432.6:p.Phe195Val
ENST00000318158.10:c.583T>G ENSP00000313432.6:p.Phe195Val
ENST00000377824.8:n.620T>G
ENST00000460882.5:n.610T>G
ENST00000480596.5:n.1284T>G
ENST00000482603.1:n.36T>G
ENST00000491488.5:n.288T>G
ENST00000494290.1:c.154T>G ENSP00000432021.1:p.Phe52Val
ENST00000497693.1:n.2116T>G
ENST00000607784.1:c.583T>G ENSP00000475569.1:p.Phe195Val
NM_012203.1:c.583T>G NP_036335.1:p.Phe195Val
XM_005251631.1:c.262T>G XP_005251688.1:p.Phe88Val
XM_011518073.1:c.181T>G XP_011516375.1:p.Phe61Val
XR_929374.1:n.1028T>G
XM_017015320.2:c.583T>G XP_016870809.1:p.Phe195Val
XM_017015321.2:c.583T>G XP_016870810.1:p.Phe195Val
XM_017015323.2:c.181T>G XP_016870812.1:p.Phe61Val
XM_024447716.1:c.856T>G XP_024303484.1:p.Phe286Val
XM_024447717.1:c.856T>G XP_024303485.1:p.Phe286Val
XR_002956828.1:n.871T>G
XR_002956829.1:n.871T>G
XR_002956830.1:n.642T>G
XR_002956831.1:n.317T>G
XR_002956832.1:n.1002T>G
NM_012203.2:c.583T>G MANE Select NP_036335.1:p.Phe195Val