Canonical Allele Identifier: CA373442989
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429742T>G , CM000671.2:g.37429742T>G GRCh38
NC_000009.11:g.37429739T>G , CM000671.1:g.37429739T>G GRCh37
NC_000009.10:g.37419739T>G NCBI36
NG_008135.1:g.12033T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.504T>G MANE Select ENSP00000313432.6:p.Ile168Met
ENST00000318158.10:c.504T>G ENSP00000313432.6:p.Ile168Met
ENST00000377824.8:n.541T>G
ENST00000460882.5:n.531T>G
ENST00000480596.5:n.1205T>G
ENST00000491488.5:n.209T>G
ENST00000494290.1:c.75T>G ENSP00000432021.1:p.Ile25Met
ENST00000497693.1:n.2037T>G
ENST00000607784.1:c.504T>G ENSP00000475569.1:p.Ile168Met
NM_012203.1:c.504T>G NP_036335.1:p.Ile168Met
XM_005251631.1:c.183T>G XP_005251688.1:p.Ile61Met
XM_011518073.1:c.102T>G XP_011516375.1:p.Ile34Met
XR_929374.1:n.949T>G
XM_017015320.2:c.504T>G XP_016870809.1:p.Ile168Met
XM_017015321.2:c.504T>G XP_016870810.1:p.Ile168Met
XM_017015323.2:c.102T>G XP_016870812.1:p.Ile34Met
XM_024447716.1:c.777T>G XP_024303484.1:p.Ile259Met
XM_024447717.1:c.777T>G XP_024303485.1:p.Ile259Met
XR_002956828.1:n.792T>G
XR_002956829.1:n.792T>G
XR_002956830.1:n.563T>G
XR_002956831.1:n.238T>G
XR_002956832.1:n.923T>G
NM_012203.2:c.504T>G MANE Select NP_036335.1:p.Ile168Met