Canonical Allele Identifier: CA373442970
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1823267013
gnomAD v3: 9-37429737-G-C
gnomAD v4: 9-37429737-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429737G>C , CM000671.2:g.37429737G>C GRCh38
NC_000009.11:g.37429734G>C , CM000671.1:g.37429734G>C GRCh37
NC_000009.10:g.37419734G>C NCBI36
NG_008135.1:g.12028G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.499G>C MANE Select ENSP00000313432.6:p.Ala167Pro
ENST00000318158.10:c.499G>C ENSP00000313432.6:p.Ala167Pro
ENST00000377824.8:n.536G>C
ENST00000460882.5:n.526G>C
ENST00000480596.5:n.1200G>C
ENST00000491488.5:n.204G>C
ENST00000494290.1:c.70G>C ENSP00000432021.1:p.Ala24Pro
ENST00000497693.1:n.2032G>C
ENST00000607784.1:c.499G>C ENSP00000475569.1:p.Ala167Pro
NM_012203.1:c.499G>C NP_036335.1:p.Ala167Pro
XM_005251631.1:c.178G>C XP_005251688.1:p.Ala60Pro
XM_011518073.1:c.97G>C XP_011516375.1:p.Ala33Pro
XR_929374.1:n.944G>C
XM_017015320.2:c.499G>C XP_016870809.1:p.Ala167Pro
XM_017015321.2:c.499G>C XP_016870810.1:p.Ala167Pro
XM_017015323.2:c.97G>C XP_016870812.1:p.Ala33Pro
XM_024447716.1:c.772G>C XP_024303484.1:p.Ala258Pro
XM_024447717.1:c.772G>C XP_024303485.1:p.Ala258Pro
XR_002956828.1:n.787G>C
XR_002956829.1:n.787G>C
XR_002956830.1:n.558G>C
XR_002956831.1:n.233G>C
XR_002956832.1:n.918G>C
NM_012203.2:c.499G>C MANE Select NP_036335.1:p.Ala167Pro