Canonical Allele Identifier: CA373444482
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432072G>C , CM000671.2:g.37432072G>C GRCh38
NC_000009.11:g.37432069G>C , CM000671.1:g.37432069G>C GRCh37
NC_000009.10:g.37422069G>C NCBI36
NG_008135.1:g.14363G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.799G>C MANE Select ENSP00000313432.6:p.Gly267Arg
ENST00000318158.10:c.799G>C ENSP00000313432.6:p.Gly267Arg
ENST00000460882.5:n.826G>C
ENST00000480596.5:n.1500G>C
ENST00000482603.1:n.252G>C
ENST00000491488.5:n.504G>C
ENST00000494290.1:c.*51+921G>C ENSP00000432021.1:n.*51+921G>C
ENST00000497693.1:n.4367G>C
ENST00000607784.1:c.799G>C ENSP00000475569.1:p.Gly267Arg
NM_012203.1:c.799G>C NP_036335.1:p.Gly267Arg
XM_005251631.1:c.478G>C XP_005251688.1:p.Gly160Arg
XM_011518073.1:c.397G>C XP_011516375.1:p.Gly133Arg
XM_017015320.2:c.799G>C XP_016870809.1:p.Gly267Arg
XM_017015321.2:c.799G>C XP_016870810.1:p.Gly267Arg
XM_017015323.2:c.397G>C XP_016870812.1:p.Gly133Arg
XM_024447716.1:c.1072G>C XP_024303484.1:p.Gly358Arg
XM_024447717.1:c.1072G>C XP_024303485.1:p.Gly358Arg
XR_002956828.1:n.1087G>C
XR_002956829.1:n.1087G>C
XR_002956830.1:n.2219G>C
XR_002956831.1:n.1894G>C
XR_002956832.1:n.1218G>C
NM_012203.2:c.799G>C MANE Select NP_036335.1:p.Gly267Arg