Canonical Allele Identifier: CA373443582
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429831A>C , CM000671.2:g.37429831A>C GRCh38
NC_000009.11:g.37429828A>C , CM000671.1:g.37429828A>C GRCh37
NC_000009.10:g.37419828A>C NCBI36
NG_008135.1:g.12122A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.593A>C MANE Select ENSP00000313432.6:p.Glu198Ala
ENST00000318158.10:c.593A>C ENSP00000313432.6:p.Glu198Ala
ENST00000377824.8:n.630A>C
ENST00000460882.5:n.620A>C
ENST00000480596.5:n.1294A>C
ENST00000482603.1:n.46A>C
ENST00000491488.5:n.298A>C
ENST00000494290.1:c.164A>C ENSP00000432021.1:p.Glu55Ala
ENST00000497693.1:n.2126A>C
ENST00000607784.1:c.593A>C ENSP00000475569.1:p.Glu198Ala
NM_012203.1:c.593A>C NP_036335.1:p.Glu198Ala
XM_005251631.1:c.272A>C XP_005251688.1:p.Glu91Ala
XM_011518073.1:c.191A>C XP_011516375.1:p.Glu64Ala
XR_929374.1:n.1038A>C
XM_017015320.2:c.593A>C XP_016870809.1:p.Glu198Ala
XM_017015321.2:c.593A>C XP_016870810.1:p.Glu198Ala
XM_017015323.2:c.191A>C XP_016870812.1:p.Glu64Ala
XM_024447716.1:c.866A>C XP_024303484.1:p.Glu289Ala
XM_024447717.1:c.866A>C XP_024303485.1:p.Glu289Ala
XR_002956828.1:n.881A>C
XR_002956829.1:n.881A>C
XR_002956830.1:n.652A>C
XR_002956831.1:n.327A>C
XR_002956832.1:n.1012A>C
NM_012203.2:c.593A>C MANE Select NP_036335.1:p.Glu198Ala