Canonical Allele Identifier: CA373444550
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432106C>A , CM000671.2:g.37432106C>A GRCh38
NC_000009.11:g.37432103C>A , CM000671.1:g.37432103C>A GRCh37
NC_000009.10:g.37422103C>A NCBI36
NG_008135.1:g.14397C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.833C>A MANE Select ENSP00000313432.6:p.Thr278Lys
ENST00000318158.10:c.833C>A ENSP00000313432.6:p.Thr278Lys
ENST00000460882.5:n.860C>A
ENST00000480596.5:n.1534C>A
ENST00000482603.1:n.286C>A
ENST00000491488.5:n.538C>A
ENST00000494290.1:c.*51+955C>A ENSP00000432021.1:n.*51+955C>A
ENST00000497693.1:n.4401C>A
ENST00000512404.2:n.20C>A
ENST00000607784.1:c.833C>A ENSP00000475569.1:p.Thr278Lys
NM_012203.1:c.833C>A NP_036335.1:p.Thr278Lys
XM_005251631.1:c.512C>A XP_005251688.1:p.Thr171Lys
XM_011518073.1:c.431C>A XP_011516375.1:p.Thr144Lys
XM_017015320.2:c.833C>A XP_016870809.1:p.Thr278Lys
XM_017015321.2:c.833C>A XP_016870810.1:p.Thr278Lys
XM_017015323.2:c.431C>A XP_016870812.1:p.Thr144Lys
XM_024447716.1:c.1106C>A XP_024303484.1:p.Thr369Lys
XM_024447717.1:c.1106C>A XP_024303485.1:p.Thr369Lys
XR_002956828.1:n.1121C>A
XR_002956829.1:n.1121C>A
XR_002956830.1:n.2253C>A
XR_002956831.1:n.1928C>A
XR_002956832.1:n.1252C>A
NM_012203.2:c.833C>A MANE Select NP_036335.1:p.Thr278Lys