Canonical Allele Identifier: CA373442124
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37425937T>A , CM000671.2:g.37425937T>A GRCh38
NC_000009.11:g.37425934T>A , CM000671.1:g.37425934T>A GRCh37
NC_000009.10:g.37415934T>A NCBI36
NG_008135.1:g.8228T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.230T>A MANE Select ENSP00000313432.6:p.Val77Asp
ENST00000318158.10:c.230T>A ENSP00000313432.6:p.Val77Asp
ENST00000377824.8:n.267T>A
ENST00000460882.5:n.257T>A
ENST00000487399.5:n.239T>A
ENST00000491488.5:n.110-2547T>A
ENST00000493368.5:n.287T>A
ENST00000607784.1:c.230T>A ENSP00000475569.1:p.Val77Asp
NM_012203.1:c.230T>A NP_036335.1:p.Val77Asp
XM_005251631.1:c.84-2547T>A XP_005251688.1:n.84-2547T>A
XM_011518073.1:c.-533T>A XP_011516375.1:n.-533T>A
XR_929374.1:n.315T>A
XM_017015320.2:c.230T>A XP_016870809.1:p.Val77Asp
XM_017015321.2:c.230T>A XP_016870810.1:p.Val77Asp
XM_017015323.2:c.-533T>A XP_016870812.1:n.-533T>A
XM_024447716.1:c.503T>A XP_024303484.1:p.Val168Asp
XM_024447717.1:c.503T>A XP_024303485.1:p.Val168Asp
XR_002956828.1:n.518T>A
XR_002956829.1:n.518T>A
XR_002956830.1:n.289T>A
XR_002956831.1:n.139-2547T>A
XR_002956832.1:n.289T>A
NM_012203.2:c.230T>A MANE Select NP_036335.1:p.Val77Asp