Canonical Allele Identifier: CA373442990
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429743G>A , CM000671.2:g.37429743G>A GRCh38
NC_000009.11:g.37429740G>A , CM000671.1:g.37429740G>A GRCh37
NC_000009.10:g.37419740G>A NCBI36
NG_008135.1:g.12034G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.505G>A MANE Select ENSP00000313432.6:p.Ala169Thr
ENST00000318158.10:c.505G>A ENSP00000313432.6:p.Ala169Thr
ENST00000377824.8:n.542G>A
ENST00000460882.5:n.532G>A
ENST00000480596.5:n.1206G>A
ENST00000491488.5:n.210G>A
ENST00000494290.1:c.76G>A ENSP00000432021.1:p.Ala26Thr
ENST00000497693.1:n.2038G>A
ENST00000607784.1:c.505G>A ENSP00000475569.1:p.Ala169Thr
NM_012203.1:c.505G>A NP_036335.1:p.Ala169Thr
XM_005251631.1:c.184G>A XP_005251688.1:p.Ala62Thr
XM_011518073.1:c.103G>A XP_011516375.1:p.Ala35Thr
XR_929374.1:n.950G>A
XM_017015320.2:c.505G>A XP_016870809.1:p.Ala169Thr
XM_017015321.2:c.505G>A XP_016870810.1:p.Ala169Thr
XM_017015323.2:c.103G>A XP_016870812.1:p.Ala35Thr
XM_024447716.1:c.778G>A XP_024303484.1:p.Ala260Thr
XM_024447717.1:c.778G>A XP_024303485.1:p.Ala260Thr
XR_002956828.1:n.793G>A
XR_002956829.1:n.793G>A
XR_002956830.1:n.564G>A
XR_002956831.1:n.239G>A
XR_002956832.1:n.924G>A
NM_012203.2:c.505G>A MANE Select NP_036335.1:p.Ala169Thr