Canonical Allele Identifier: CA373444517
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432090C>A , CM000671.2:g.37432090C>A GRCh38
NC_000009.11:g.37432087C>A , CM000671.1:g.37432087C>A GRCh37
NC_000009.10:g.37422087C>A NCBI36
NG_008135.1:g.14381C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.817C>A MANE Select ENSP00000313432.6:p.Pro273Thr
ENST00000318158.10:c.817C>A ENSP00000313432.6:p.Pro273Thr
ENST00000460882.5:n.844C>A
ENST00000480596.5:n.1518C>A
ENST00000482603.1:n.270C>A
ENST00000491488.5:n.522C>A
ENST00000494290.1:c.*51+939C>A ENSP00000432021.1:n.*51+939C>A
ENST00000497693.1:n.4385C>A
ENST00000512404.2:n.4C>A
ENST00000607784.1:c.817C>A ENSP00000475569.1:p.Pro273Thr
NM_012203.1:c.817C>A NP_036335.1:p.Pro273Thr
XM_005251631.1:c.496C>A XP_005251688.1:p.Pro166Thr
XM_011518073.1:c.415C>A XP_011516375.1:p.Pro139Thr
XM_017015320.2:c.817C>A XP_016870809.1:p.Pro273Thr
XM_017015321.2:c.817C>A XP_016870810.1:p.Pro273Thr
XM_017015323.2:c.415C>A XP_016870812.1:p.Pro139Thr
XM_024447716.1:c.1090C>A XP_024303484.1:p.Pro364Thr
XM_024447717.1:c.1090C>A XP_024303485.1:p.Pro364Thr
XR_002956828.1:n.1105C>A
XR_002956829.1:n.1105C>A
XR_002956830.1:n.2237C>A
XR_002956831.1:n.1912C>A
XR_002956832.1:n.1236C>A
NM_012203.2:c.817C>A MANE Select NP_036335.1:p.Pro273Thr