Canonical Allele Identifier: CA373443310
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429759C>A , CM000671.2:g.37429759C>A GRCh38
NC_000009.11:g.37429756C>A , CM000671.1:g.37429756C>A GRCh37
NC_000009.10:g.37419756C>A NCBI36
NG_008135.1:g.12050C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.521C>A MANE Select ENSP00000313432.6:p.Pro174Gln
ENST00000318158.10:c.521C>A ENSP00000313432.6:p.Pro174Gln
ENST00000377824.8:n.558C>A
ENST00000460882.5:n.548C>A
ENST00000480596.5:n.1222C>A
ENST00000491488.5:n.226C>A
ENST00000494290.1:c.92C>A ENSP00000432021.1:p.Pro31Gln
ENST00000497693.1:n.2054C>A
ENST00000607784.1:c.521C>A ENSP00000475569.1:p.Pro174Gln
NM_012203.1:c.521C>A NP_036335.1:p.Pro174Gln
XM_005251631.1:c.200C>A XP_005251688.1:p.Pro67Gln
XM_011518073.1:c.119C>A XP_011516375.1:p.Pro40Gln
XR_929374.1:n.966C>A
XM_017015320.2:c.521C>A XP_016870809.1:p.Pro174Gln
XM_017015321.2:c.521C>A XP_016870810.1:p.Pro174Gln
XM_017015323.2:c.119C>A XP_016870812.1:p.Pro40Gln
XM_024447716.1:c.794C>A XP_024303484.1:p.Pro265Gln
XM_024447717.1:c.794C>A XP_024303485.1:p.Pro265Gln
XR_002956828.1:n.809C>A
XR_002956829.1:n.809C>A
XR_002956830.1:n.580C>A
XR_002956831.1:n.255C>A
XR_002956832.1:n.940C>A
NM_012203.2:c.521C>A MANE Select NP_036335.1:p.Pro174Gln