Canonical Allele Identifier: CA373444388
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432028A>T , CM000671.2:g.37432028A>T GRCh38
NC_000009.11:g.37432025A>T , CM000671.1:g.37432025A>T GRCh37
NC_000009.10:g.37422025A>T NCBI36
NG_008135.1:g.14319A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.755A>T MANE Select ENSP00000313432.6:p.Asp252Val
ENST00000318158.10:c.755A>T ENSP00000313432.6:p.Asp252Val
ENST00000460882.5:n.782A>T
ENST00000480596.5:n.1456A>T
ENST00000482603.1:n.208A>T
ENST00000491488.5:n.460A>T
ENST00000494290.1:c.*51+877A>T ENSP00000432021.1:n.*51+877A>T
ENST00000497693.1:n.4323A>T
ENST00000607784.1:c.755A>T ENSP00000475569.1:p.Asp252Val
NM_012203.1:c.755A>T NP_036335.1:p.Asp252Val
XM_005251631.1:c.434A>T XP_005251688.1:p.Asp145Val
XM_011518073.1:c.353A>T XP_011516375.1:p.Asp118Val
XM_017015320.2:c.755A>T XP_016870809.1:p.Asp252Val
XM_017015321.2:c.755A>T XP_016870810.1:p.Asp252Val
XM_017015323.2:c.353A>T XP_016870812.1:p.Asp118Val
XM_024447716.1:c.1028A>T XP_024303484.1:p.Asp343Val
XM_024447717.1:c.1028A>T XP_024303485.1:p.Asp343Val
XR_002956828.1:n.1043A>T
XR_002956829.1:n.1043A>T
XR_002956830.1:n.2175A>T
XR_002956831.1:n.1850A>T
XR_002956832.1:n.1174A>T
NM_012203.2:c.755A>T MANE Select NP_036335.1:p.Asp252Val