Canonical Allele Identifier: CA373441538
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37424919-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424919A>C , CM000671.2:g.37424919A>C GRCh38
NC_000009.11:g.37424916A>C , CM000671.1:g.37424916A>C GRCh37
NC_000009.10:g.37414916A>C NCBI36
NG_008135.1:g.7210A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.158A>C MANE Select ENSP00000313432.6:p.His53Pro
ENST00000318158.10:c.158A>C ENSP00000313432.6:p.His53Pro
ENST00000377824.8:n.195A>C
ENST00000460882.5:n.185A>C
ENST00000487399.5:n.167A>C
ENST00000491488.5:n.109+2086A>C
ENST00000493368.5:n.215A>C
ENST00000607784.1:c.158A>C ENSP00000475569.1:p.His53Pro
NM_012203.1:c.158A>C NP_036335.1:p.His53Pro
XM_005251631.1:c.83+2086A>C XP_005251688.1:n.83+2086A>C
XM_011518073.1:c.-605A>C XP_011516375.1:n.-605A>C
XR_929374.1:n.243A>C
XM_017015320.2:c.158A>C XP_016870809.1:p.His53Pro
XM_017015321.2:c.158A>C XP_016870810.1:p.His53Pro
XM_017015323.2:c.-605A>C XP_016870812.1:n.-605A>C
XM_024447716.1:c.431A>C XP_024303484.1:p.His144Pro
XM_024447717.1:c.431A>C XP_024303485.1:p.His144Pro
XR_002956828.1:n.446A>C
XR_002956829.1:n.446A>C
XR_002956830.1:n.217A>C
XR_002956831.1:n.138+2086A>C
XR_002956832.1:n.217A>C
NM_012203.2:c.158A>C MANE Select NP_036335.1:p.His53Pro