Canonical Allele Identifier: CA373442800
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37428545-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428545G>A , CM000671.2:g.37428545G>A GRCh38
NC_000009.11:g.37428542G>A , CM000671.1:g.37428542G>A GRCh37
NC_000009.10:g.37418542G>A NCBI36
NG_008135.1:g.10836G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.466G>A MANE Select ENSP00000313432.6:p.Val156Ile
ENST00000318158.10:c.466G>A ENSP00000313432.6:p.Val156Ile
ENST00000377824.8:n.503G>A
ENST00000460882.5:n.493G>A
ENST00000480596.5:n.8G>A
ENST00000491488.5:n.171G>A
ENST00000493368.5:n.523G>A
ENST00000497693.1:n.840G>A
ENST00000607784.1:c.466G>A ENSP00000475569.1:p.Val156Ile
NM_012203.1:c.466G>A NP_036335.1:p.Val156Ile
XM_005251631.1:c.145G>A XP_005251688.1:p.Val49Ile
XM_011518073.1:c.-297G>A XP_011516375.1:n.-297G>A
XR_929374.1:n.551G>A
XM_017015320.2:c.466G>A XP_016870809.1:p.Val156Ile
XM_017015321.2:c.466G>A XP_016870810.1:p.Val156Ile
XM_017015323.2:c.-297G>A XP_016870812.1:n.-297G>A
XM_024447716.1:c.739G>A XP_024303484.1:p.Val247Ile
XM_024447717.1:c.739G>A XP_024303485.1:p.Val247Ile
XR_002956828.1:n.754G>A
XR_002956829.1:n.754G>A
XR_002956830.1:n.525G>A
XR_002956831.1:n.200G>A
XR_002956832.1:n.525G>A
NM_012203.2:c.466G>A MANE Select NP_036335.1:p.Val156Ile