Canonical Allele Identifier: CA373444389
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37432029-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432029C>A , CM000671.2:g.37432029C>A GRCh38
NC_000009.11:g.37432026C>A , CM000671.1:g.37432026C>A GRCh37
NC_000009.10:g.37422026C>A NCBI36
NG_008135.1:g.14320C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.756C>A MANE Select ENSP00000313432.6:p.Asp252Glu
ENST00000318158.10:c.756C>A ENSP00000313432.6:p.Asp252Glu
ENST00000460882.5:n.783C>A
ENST00000480596.5:n.1457C>A
ENST00000482603.1:n.209C>A
ENST00000491488.5:n.461C>A
ENST00000494290.1:c.*51+878C>A ENSP00000432021.1:n.*51+878C>A
ENST00000497693.1:n.4324C>A
ENST00000607784.1:c.756C>A ENSP00000475569.1:p.Asp252Glu
NM_012203.1:c.756C>A NP_036335.1:p.Asp252Glu
XM_005251631.1:c.435C>A XP_005251688.1:p.Asp145Glu
XM_011518073.1:c.354C>A XP_011516375.1:p.Asp118Glu
XM_017015320.2:c.756C>A XP_016870809.1:p.Asp252Glu
XM_017015321.2:c.756C>A XP_016870810.1:p.Asp252Glu
XM_017015323.2:c.354C>A XP_016870812.1:p.Asp118Glu
XM_024447716.1:c.1029C>A XP_024303484.1:p.Asp343Glu
XM_024447717.1:c.1029C>A XP_024303485.1:p.Asp343Glu
XR_002956828.1:n.1044C>A
XR_002956829.1:n.1044C>A
XR_002956830.1:n.2176C>A
XR_002956831.1:n.1851C>A
XR_002956832.1:n.1175C>A
NM_012203.2:c.756C>A MANE Select NP_036335.1:p.Asp252Glu