Canonical Allele Identifier: CA373443489
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37429810-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429810A>G , CM000671.2:g.37429810A>G GRCh38
NC_000009.11:g.37429807A>G , CM000671.1:g.37429807A>G GRCh37
NC_000009.10:g.37419807A>G NCBI36
NG_008135.1:g.12101A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.572A>G MANE Select ENSP00000313432.6:p.Glu191Gly
ENST00000318158.10:c.572A>G ENSP00000313432.6:p.Glu191Gly
ENST00000377824.8:n.609A>G
ENST00000460882.5:n.599A>G
ENST00000480596.5:n.1273A>G
ENST00000482603.1:n.25A>G
ENST00000491488.5:n.277A>G
ENST00000494290.1:c.143A>G ENSP00000432021.1:p.Glu48Gly
ENST00000497693.1:n.2105A>G
ENST00000607784.1:c.572A>G ENSP00000475569.1:p.Glu191Gly
NM_012203.1:c.572A>G NP_036335.1:p.Glu191Gly
XM_005251631.1:c.251A>G XP_005251688.1:p.Glu84Gly
XM_011518073.1:c.170A>G XP_011516375.1:p.Glu57Gly
XR_929374.1:n.1017A>G
XM_017015320.2:c.572A>G XP_016870809.1:p.Glu191Gly
XM_017015321.2:c.572A>G XP_016870810.1:p.Glu191Gly
XM_017015323.2:c.170A>G XP_016870812.1:p.Glu57Gly
XM_024447716.1:c.845A>G XP_024303484.1:p.Glu282Gly
XM_024447717.1:c.845A>G XP_024303485.1:p.Glu282Gly
XR_002956828.1:n.860A>G
XR_002956829.1:n.860A>G
XR_002956830.1:n.631A>G
XR_002956831.1:n.306A>G
XR_002956832.1:n.991A>G
NM_012203.2:c.572A>G MANE Select NP_036335.1:p.Glu191Gly