Canonical Allele Identifier: CA373443484
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429809G>A , CM000671.2:g.37429809G>A GRCh38
NC_000009.11:g.37429806G>A , CM000671.1:g.37429806G>A GRCh37
NC_000009.10:g.37419806G>A NCBI36
NG_008135.1:g.12100G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.571G>A MANE Select ENSP00000313432.6:p.Glu191Lys
ENST00000318158.10:c.571G>A ENSP00000313432.6:p.Glu191Lys
ENST00000377824.8:n.608G>A
ENST00000460882.5:n.598G>A
ENST00000480596.5:n.1272G>A
ENST00000482603.1:n.24G>A
ENST00000491488.5:n.276G>A
ENST00000494290.1:c.142G>A ENSP00000432021.1:p.Glu48Lys
ENST00000497693.1:n.2104G>A
ENST00000607784.1:c.571G>A ENSP00000475569.1:p.Glu191Lys
NM_012203.1:c.571G>A NP_036335.1:p.Glu191Lys
XM_005251631.1:c.250G>A XP_005251688.1:p.Glu84Lys
XM_011518073.1:c.169G>A XP_011516375.1:p.Glu57Lys
XR_929374.1:n.1016G>A
XM_017015320.2:c.571G>A XP_016870809.1:p.Glu191Lys
XM_017015321.2:c.571G>A XP_016870810.1:p.Glu191Lys
XM_017015323.2:c.169G>A XP_016870812.1:p.Glu57Lys
XM_024447716.1:c.844G>A XP_024303484.1:p.Glu282Lys
XM_024447717.1:c.844G>A XP_024303485.1:p.Glu282Lys
XR_002956828.1:n.859G>A
XR_002956829.1:n.859G>A
XR_002956830.1:n.630G>A
XR_002956831.1:n.305G>A
XR_002956832.1:n.990G>A
NM_012203.2:c.571G>A MANE Select NP_036335.1:p.Glu191Lys