Canonical Allele Identifier: CA373442428
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426548G>A , CM000671.2:g.37426548G>A GRCh38
NC_000009.11:g.37426545G>A , CM000671.1:g.37426545G>A GRCh37
NC_000009.10:g.37416545G>A NCBI36
NG_008135.1:g.8839G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.298G>A MANE Select ENSP00000313432.6:p.Val100Ile
ENST00000318158.10:c.298G>A ENSP00000313432.6:p.Val100Ile
ENST00000377824.8:n.335G>A
ENST00000460882.5:n.325G>A
ENST00000487399.5:n.850G>A
ENST00000491488.5:n.110-1936G>A
ENST00000493368.5:n.355G>A
ENST00000607784.1:c.298G>A ENSP00000475569.1:p.Val100Ile
NM_012203.1:c.298G>A NP_036335.1:p.Val100Ile
XM_005251631.1:c.84-1936G>A XP_005251688.1:n.84-1936G>A
XM_011518073.1:c.-465G>A XP_011516375.1:n.-465G>A
XR_929374.1:n.383G>A
XM_017015320.2:c.298G>A XP_016870809.1:p.Val100Ile
XM_017015321.2:c.298G>A XP_016870810.1:p.Val100Ile
XM_017015323.2:c.-465G>A XP_016870812.1:n.-465G>A
XM_024447716.1:c.571G>A XP_024303484.1:p.Val191Ile
XM_024447717.1:c.571G>A XP_024303485.1:p.Val191Ile
XR_002956828.1:n.586G>A
XR_002956829.1:n.586G>A
XR_002956830.1:n.357G>A
XR_002956831.1:n.139-1936G>A
XR_002956832.1:n.357G>A
NM_012203.2:c.298G>A MANE Select NP_036335.1:p.Val100Ile