Canonical Allele Identifier: CA373443579
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.592G>T MANE Select ENSP00000313432.6:p.Glu198Ter
ENST00000318158.10:c.592G>T ENSP00000313432.6:p.Glu198Ter
ENST00000377824.8:n.629G>T
ENST00000460882.5:n.619G>T
ENST00000480596.5:n.1293G>T
ENST00000482603.1:n.45G>T
ENST00000491488.5:n.297G>T
ENST00000494290.1:c.163G>T ENSP00000432021.1:p.Glu55Ter
ENST00000497693.1:n.2125G>T
ENST00000607784.1:c.592G>T ENSP00000475569.1:p.Glu198Ter
NM_012203.1:c.592G>T NP_036335.1:p.Glu198Ter
XM_005251631.1:c.271G>T XP_005251688.1:p.Glu91Ter
XM_011518073.1:c.190G>T XP_011516375.1:p.Glu64Ter
XR_929374.1:n.1037G>T
XM_017015320.2:c.592G>T XP_016870809.1:p.Glu198Ter
XM_017015321.2:c.592G>T XP_016870810.1:p.Glu198Ter
XM_017015323.2:c.190G>T XP_016870812.1:p.Glu64Ter
XM_024447716.1:c.865G>T XP_024303484.1:p.Glu289Ter
XM_024447717.1:c.865G>T XP_024303485.1:p.Glu289Ter
XR_002956828.1:n.880G>T
XR_002956829.1:n.880G>T
XR_002956830.1:n.651G>T
XR_002956831.1:n.326G>T
XR_002956832.1:n.1011G>T
NM_012203.2:c.592G>T MANE Select NP_036335.1:p.Glu198Ter