Canonical Allele Identifier: CA192890603
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs917641311
gnomAD v4: 9-37429774-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429774G>A , CM000671.2:g.37429774G>A GRCh38
NC_000009.11:g.37429771G>A , CM000671.1:g.37429771G>A GRCh37
NC_000009.10:g.37419771G>A NCBI36
NG_008135.1:g.12065G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.536G>A MANE Select ENSP00000313432.6:p.Arg179Lys
ENST00000318158.10:c.536G>A ENSP00000313432.6:p.Arg179Lys
ENST00000377824.8:n.573G>A
ENST00000460882.5:n.563G>A
ENST00000480596.5:n.1237G>A
ENST00000491488.5:n.241G>A
ENST00000494290.1:c.107G>A ENSP00000432021.1:p.Arg36Lys
ENST00000497693.1:n.2069G>A
ENST00000607784.1:c.536G>A ENSP00000475569.1:p.Arg179Lys
NM_012203.1:c.536G>A NP_036335.1:p.Arg179Lys
XM_005251631.1:c.215G>A XP_005251688.1:p.Arg72Lys
XM_011518073.1:c.134G>A XP_011516375.1:p.Arg45Lys
XR_929374.1:n.981G>A
XM_017015320.2:c.536G>A XP_016870809.1:p.Arg179Lys
XM_017015321.2:c.536G>A XP_016870810.1:p.Arg179Lys
XM_017015323.2:c.134G>A XP_016870812.1:p.Arg45Lys
XM_024447716.1:c.809G>A XP_024303484.1:p.Arg270Lys
XM_024447717.1:c.809G>A XP_024303485.1:p.Arg270Lys
XR_002956828.1:n.824G>A
XR_002956829.1:n.824G>A
XR_002956830.1:n.595G>A
XR_002956831.1:n.270G>A
XR_002956832.1:n.955G>A
NM_012203.2:c.536G>A MANE Select NP_036335.1:p.Arg179Lys