Canonical Allele Identifier: CA373441723
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424966G>C , CM000671.2:g.37424966G>C GRCh38
NC_000009.11:g.37424963G>C , CM000671.1:g.37424963G>C GRCh37
NC_000009.10:g.37414963G>C NCBI36
NG_008135.1:g.7257G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.205G>C MANE Select ENSP00000313432.6:p.Asp69His
ENST00000318158.10:c.205G>C ENSP00000313432.6:p.Asp69His
ENST00000377824.8:n.242G>C
ENST00000460882.5:n.232G>C
ENST00000487399.5:n.214G>C
ENST00000491488.5:n.109+2133G>C
ENST00000493368.5:n.262G>C
ENST00000607784.1:c.205G>C ENSP00000475569.1:p.Asp69His
NM_012203.1:c.205G>C NP_036335.1:p.Asp69His
XM_005251631.1:c.83+2133G>C XP_005251688.1:n.83+2133G>C
XM_011518073.1:c.-558G>C XP_011516375.1:n.-558G>C
XR_929374.1:n.290G>C
XM_017015320.2:c.205G>C XP_016870809.1:p.Asp69His
XM_017015321.2:c.205G>C XP_016870810.1:p.Asp69His
XM_017015323.2:c.-558G>C XP_016870812.1:n.-558G>C
XM_024447716.1:c.478G>C XP_024303484.1:p.Asp160His
XM_024447717.1:c.478G>C XP_024303485.1:p.Asp160His
XR_002956828.1:n.493G>C
XR_002956829.1:n.493G>C
XR_002956830.1:n.264G>C
XR_002956831.1:n.138+2133G>C
XR_002956832.1:n.264G>C
NM_012203.2:c.205G>C MANE Select NP_036335.1:p.Asp69His