Canonical Allele Identifier: CA373445349
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436692C>A , CM000671.2:g.37436692C>A GRCh38
NC_000009.11:g.37436689C>A , CM000671.1:g.37436689C>A GRCh37
NC_000009.10:g.37426689C>A NCBI36
NG_008135.1:g.18983C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.897C>A MANE Select ENSP00000313432.6:p.His299Gln
ENST00000318158.10:c.897C>A ENSP00000313432.6:p.His299Gln
ENST00000460882.5:n.924C>A
ENST00000480596.5:n.1598C>A
ENST00000491488.5:n.602C>A
ENST00000494290.1:c.*52-189C>A ENSP00000432021.1:n.*52-189C>A
ENST00000497693.1:n.4465C>A
NM_012203.1:c.897C>A NP_036335.1:p.His299Gln
XM_005251631.1:c.576C>A XP_005251688.1:p.His192Gln
XM_011518073.1:c.495C>A XP_011516375.1:p.His165Gln
XM_017015320.2:c.946-719C>A XP_016870809.1:n.946-719C>A
XM_017015321.2:c.866-719C>A XP_016870810.1:n.866-719C>A
XM_017015323.2:c.544-719C>A XP_016870812.1:n.544-719C>A
XM_024447716.1:c.1219-719C>A XP_024303484.1:n.1219-719C>A
XM_024447717.1:c.1139-719C>A XP_024303485.1:n.1139-719C>A
XR_002956828.1:n.1234-719C>A
XR_002956829.1:n.1154-719C>A
XR_002956830.1:n.2317C>A
XR_002956831.1:n.1992C>A
XR_002956832.1:n.1316C>A
NM_012203.2:c.897C>A MANE Select NP_036335.1:p.His299Gln