Canonical Allele Identifier: CA373442408
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37426539-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426539G>A , CM000671.2:g.37426539G>A GRCh38
NC_000009.11:g.37426536G>A , CM000671.1:g.37426536G>A GRCh37
NC_000009.10:g.37416536G>A NCBI36
NG_008135.1:g.8830G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.289G>A MANE Select ENSP00000313432.6:p.Gly97Arg
ENST00000318158.10:c.289G>A ENSP00000313432.6:p.Gly97Arg
ENST00000377824.8:n.326G>A
ENST00000460882.5:n.316G>A
ENST00000487399.5:n.841G>A
ENST00000491488.5:n.110-1945G>A
ENST00000493368.5:n.346G>A
ENST00000607784.1:c.289G>A ENSP00000475569.1:p.Gly97Arg
NM_012203.1:c.289G>A NP_036335.1:p.Gly97Arg
XM_005251631.1:c.84-1945G>A XP_005251688.1:n.84-1945G>A
XM_011518073.1:c.-474G>A XP_011516375.1:n.-474G>A
XR_929374.1:n.374G>A
XM_017015320.2:c.289G>A XP_016870809.1:p.Gly97Arg
XM_017015321.2:c.289G>A XP_016870810.1:p.Gly97Arg
XM_017015323.2:c.-474G>A XP_016870812.1:n.-474G>A
XM_024447716.1:c.562G>A XP_024303484.1:p.Gly188Arg
XM_024447717.1:c.562G>A XP_024303485.1:p.Gly188Arg
XR_002956828.1:n.577G>A
XR_002956829.1:n.577G>A
XR_002956830.1:n.348G>A
XR_002956831.1:n.139-1945G>A
XR_002956832.1:n.348G>A
NM_012203.2:c.289G>A MANE Select NP_036335.1:p.Gly97Arg