Canonical Allele Identifier: CA373443577
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429830G>C , CM000671.2:g.37429830G>C GRCh38
NC_000009.11:g.37429827G>C , CM000671.1:g.37429827G>C GRCh37
NC_000009.10:g.37419827G>C NCBI36
NG_008135.1:g.12121G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.592G>C MANE Select ENSP00000313432.6:p.Glu198Gln
ENST00000318158.10:c.592G>C ENSP00000313432.6:p.Glu198Gln
ENST00000377824.8:n.629G>C
ENST00000460882.5:n.619G>C
ENST00000480596.5:n.1293G>C
ENST00000482603.1:n.45G>C
ENST00000491488.5:n.297G>C
ENST00000494290.1:c.163G>C ENSP00000432021.1:p.Glu55Gln
ENST00000497693.1:n.2125G>C
ENST00000607784.1:c.592G>C ENSP00000475569.1:p.Glu198Gln
NM_012203.1:c.592G>C NP_036335.1:p.Glu198Gln
XM_005251631.1:c.271G>C XP_005251688.1:p.Glu91Gln
XM_011518073.1:c.190G>C XP_011516375.1:p.Glu64Gln
XR_929374.1:n.1037G>C
XM_017015320.2:c.592G>C XP_016870809.1:p.Glu198Gln
XM_017015321.2:c.592G>C XP_016870810.1:p.Glu198Gln
XM_017015323.2:c.190G>C XP_016870812.1:p.Glu64Gln
XM_024447716.1:c.865G>C XP_024303484.1:p.Glu289Gln
XM_024447717.1:c.865G>C XP_024303485.1:p.Glu289Gln
XR_002956828.1:n.880G>C
XR_002956829.1:n.880G>C
XR_002956830.1:n.651G>C
XR_002956831.1:n.326G>C
XR_002956832.1:n.1011G>C
NM_012203.2:c.592G>C MANE Select NP_036335.1:p.Glu198Gln