Canonical Allele Identifier: CA373443411
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429786C>G , CM000671.2:g.37429786C>G GRCh38
NC_000009.11:g.37429783C>G , CM000671.1:g.37429783C>G GRCh37
NC_000009.10:g.37419783C>G NCBI36
NG_008135.1:g.12077C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.548C>G MANE Select ENSP00000313432.6:p.Thr183Arg
ENST00000318158.10:c.548C>G ENSP00000313432.6:p.Thr183Arg
ENST00000377824.8:n.585C>G
ENST00000460882.5:n.575C>G
ENST00000480596.5:n.1249C>G
ENST00000482603.1:n.1C>G
ENST00000491488.5:n.253C>G
ENST00000494290.1:c.119C>G ENSP00000432021.1:p.Thr40Arg
ENST00000497693.1:n.2081C>G
ENST00000607784.1:c.548C>G ENSP00000475569.1:p.Thr183Arg
NM_012203.1:c.548C>G NP_036335.1:p.Thr183Arg
XM_005251631.1:c.227C>G XP_005251688.1:p.Thr76Arg
XM_011518073.1:c.146C>G XP_011516375.1:p.Thr49Arg
XR_929374.1:n.993C>G
XM_017015320.2:c.548C>G XP_016870809.1:p.Thr183Arg
XM_017015321.2:c.548C>G XP_016870810.1:p.Thr183Arg
XM_017015323.2:c.146C>G XP_016870812.1:p.Thr49Arg
XM_024447716.1:c.821C>G XP_024303484.1:p.Thr274Arg
XM_024447717.1:c.821C>G XP_024303485.1:p.Thr274Arg
XR_002956828.1:n.836C>G
XR_002956829.1:n.836C>G
XR_002956830.1:n.607C>G
XR_002956831.1:n.282C>G
XR_002956832.1:n.967C>G
NM_012203.2:c.548C>G MANE Select NP_036335.1:p.Thr183Arg