Canonical Allele Identifier: CA373444486
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432073G>T , CM000671.2:g.37432073G>T GRCh38
NC_000009.11:g.37432070G>T , CM000671.1:g.37432070G>T GRCh37
NC_000009.10:g.37422070G>T NCBI36
NG_008135.1:g.14364G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.800G>T MANE Select ENSP00000313432.6:p.Gly267Val
ENST00000318158.10:c.800G>T ENSP00000313432.6:p.Gly267Val
ENST00000460882.5:n.827G>T
ENST00000480596.5:n.1501G>T
ENST00000482603.1:n.253G>T
ENST00000491488.5:n.505G>T
ENST00000494290.1:c.*51+922G>T ENSP00000432021.1:n.*51+922G>T
ENST00000497693.1:n.4368G>T
ENST00000607784.1:c.800G>T ENSP00000475569.1:p.Gly267Val
NM_012203.1:c.800G>T NP_036335.1:p.Gly267Val
XM_005251631.1:c.479G>T XP_005251688.1:p.Gly160Val
XM_011518073.1:c.398G>T XP_011516375.1:p.Gly133Val
XM_017015320.2:c.800G>T XP_016870809.1:p.Gly267Val
XM_017015321.2:c.800G>T XP_016870810.1:p.Gly267Val
XM_017015323.2:c.398G>T XP_016870812.1:p.Gly133Val
XM_024447716.1:c.1073G>T XP_024303484.1:p.Gly358Val
XM_024447717.1:c.1073G>T XP_024303485.1:p.Gly358Val
XR_002956828.1:n.1088G>T
XR_002956829.1:n.1088G>T
XR_002956830.1:n.2220G>T
XR_002956831.1:n.1895G>T
XR_002956832.1:n.1219G>T
NM_012203.2:c.800G>T MANE Select NP_036335.1:p.Gly267Val