Canonical Allele Identifier: CA373441649
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424947C>A , CM000671.2:g.37424947C>A GRCh38
NC_000009.11:g.37424944C>A , CM000671.1:g.37424944C>A GRCh37
NC_000009.10:g.37414944C>A NCBI36
NG_008135.1:g.7238C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.186C>A MANE Select ENSP00000313432.6:p.His62Gln
ENST00000318158.10:c.186C>A ENSP00000313432.6:p.His62Gln
ENST00000377824.8:n.223C>A
ENST00000460882.5:n.213C>A
ENST00000487399.5:n.195C>A
ENST00000491488.5:n.109+2114C>A
ENST00000493368.5:n.243C>A
ENST00000607784.1:c.186C>A ENSP00000475569.1:p.His62Gln
NM_012203.1:c.186C>A NP_036335.1:p.His62Gln
XM_005251631.1:c.83+2114C>A XP_005251688.1:n.83+2114C>A
XM_011518073.1:c.-577C>A XP_011516375.1:n.-577C>A
XR_929374.1:n.271C>A
XM_017015320.2:c.186C>A XP_016870809.1:p.His62Gln
XM_017015321.2:c.186C>A XP_016870810.1:p.His62Gln
XM_017015323.2:c.-577C>A XP_016870812.1:n.-577C>A
XM_024447716.1:c.459C>A XP_024303484.1:p.His153Gln
XM_024447717.1:c.459C>A XP_024303485.1:p.His153Gln
XR_002956828.1:n.474C>A
XR_002956829.1:n.474C>A
XR_002956830.1:n.245C>A
XR_002956831.1:n.138+2114C>A
XR_002956832.1:n.245C>A
NM_012203.2:c.186C>A MANE Select NP_036335.1:p.His62Gln