Canonical Allele Identifier: CA373441658
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424949T>A , CM000671.2:g.37424949T>A GRCh38
NC_000009.11:g.37424946T>A , CM000671.1:g.37424946T>A GRCh37
NC_000009.10:g.37414946T>A NCBI36
NG_008135.1:g.7240T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.188T>A MANE Select ENSP00000313432.6:p.Val63Glu
ENST00000318158.10:c.188T>A ENSP00000313432.6:p.Val63Glu
ENST00000377824.8:n.225T>A
ENST00000460882.5:n.215T>A
ENST00000487399.5:n.197T>A
ENST00000491488.5:n.109+2116T>A
ENST00000493368.5:n.245T>A
ENST00000607784.1:c.188T>A ENSP00000475569.1:p.Val63Glu
NM_012203.1:c.188T>A NP_036335.1:p.Val63Glu
XM_005251631.1:c.83+2116T>A XP_005251688.1:n.83+2116T>A
XM_011518073.1:c.-575T>A XP_011516375.1:n.-575T>A
XR_929374.1:n.273T>A
XM_017015320.2:c.188T>A XP_016870809.1:p.Val63Glu
XM_017015321.2:c.188T>A XP_016870810.1:p.Val63Glu
XM_017015323.2:c.-575T>A XP_016870812.1:n.-575T>A
XM_024447716.1:c.461T>A XP_024303484.1:p.Val154Glu
XM_024447717.1:c.461T>A XP_024303485.1:p.Val154Glu
XR_002956828.1:n.476T>A
XR_002956829.1:n.476T>A
XR_002956830.1:n.247T>A
XR_002956831.1:n.138+2116T>A
XR_002956832.1:n.247T>A
NM_012203.2:c.188T>A MANE Select NP_036335.1:p.Val63Glu