Canonical Allele Identifier: CA373441662
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.188T>G MANE Select ENSP00000313432.6:p.Val63Gly
ENST00000318158.10:c.188T>G ENSP00000313432.6:p.Val63Gly
ENST00000377824.8:n.225T>G
ENST00000460882.5:n.215T>G
ENST00000487399.5:n.197T>G
ENST00000491488.5:n.109+2116T>G
ENST00000493368.5:n.245T>G
ENST00000607784.1:c.188T>G ENSP00000475569.1:p.Val63Gly
NM_012203.1:c.188T>G NP_036335.1:p.Val63Gly
XM_005251631.1:c.83+2116T>G XP_005251688.1:n.83+2116T>G
XM_011518073.1:c.-575T>G XP_011516375.1:n.-575T>G
XR_929374.1:n.273T>G
XM_017015320.2:c.188T>G XP_016870809.1:p.Val63Gly
XM_017015321.2:c.188T>G XP_016870810.1:p.Val63Gly
XM_017015323.2:c.-575T>G XP_016870812.1:n.-575T>G
XM_024447716.1:c.461T>G XP_024303484.1:p.Val154Gly
XM_024447717.1:c.461T>G XP_024303485.1:p.Val154Gly
XR_002956828.1:n.476T>G
XR_002956829.1:n.476T>G
XR_002956830.1:n.247T>G
XR_002956831.1:n.138+2116T>G
XR_002956832.1:n.247T>G
NM_012203.2:c.188T>G MANE Select NP_036335.1:p.Val63Gly