Canonical Allele Identifier: CA373444380
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432025A>G , CM000671.2:g.37432025A>G GRCh38
NC_000009.11:g.37432022A>G , CM000671.1:g.37432022A>G GRCh37
NC_000009.10:g.37422022A>G NCBI36
NG_008135.1:g.14316A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.752A>G MANE Select ENSP00000313432.6:p.Gln251Arg
ENST00000318158.10:c.752A>G ENSP00000313432.6:p.Gln251Arg
ENST00000460882.5:n.779A>G
ENST00000480596.5:n.1453A>G
ENST00000482603.1:n.205A>G
ENST00000491488.5:n.457A>G
ENST00000494290.1:c.*51+874A>G ENSP00000432021.1:n.*51+874A>G
ENST00000497693.1:n.4320A>G
ENST00000607784.1:c.752A>G ENSP00000475569.1:p.Gln251Arg
NM_012203.1:c.752A>G NP_036335.1:p.Gln251Arg
XM_005251631.1:c.431A>G XP_005251688.1:p.Gln144Arg
XM_011518073.1:c.350A>G XP_011516375.1:p.Gln117Arg
XM_017015320.2:c.752A>G XP_016870809.1:p.Gln251Arg
XM_017015321.2:c.752A>G XP_016870810.1:p.Gln251Arg
XM_017015323.2:c.350A>G XP_016870812.1:p.Gln117Arg
XM_024447716.1:c.1025A>G XP_024303484.1:p.Gln342Arg
XM_024447717.1:c.1025A>G XP_024303485.1:p.Gln342Arg
XR_002956828.1:n.1040A>G
XR_002956829.1:n.1040A>G
XR_002956830.1:n.2172A>G
XR_002956831.1:n.1847A>G
XR_002956832.1:n.1171A>G
NM_012203.2:c.752A>G MANE Select NP_036335.1:p.Gln251Arg