Canonical Allele Identifier: CA5059138
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 2262924
ClinVar RCV Id: RCV002778642
dbSNP Id: rs377374419
gnomAD v2: 9-37429761-G-T
gnomAD v4: 9-37429764-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429764G>T , CM000671.2:g.37429764G>T GRCh38
NC_000009.11:g.37429761G>T , CM000671.1:g.37429761G>T GRCh37
NC_000009.10:g.37419761G>T NCBI36
NG_008135.1:g.12055G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.526G>T MANE Select ENSP00000313432.6:p.Gly176Cys
ENST00000318158.10:c.526G>T ENSP00000313432.6:p.Gly176Cys
ENST00000377824.8:n.563G>T
ENST00000460882.5:n.553G>T
ENST00000480596.5:n.1227G>T
ENST00000491488.5:n.231G>T
ENST00000494290.1:c.97G>T ENSP00000432021.1:p.Gly33Cys
ENST00000497693.1:n.2059G>T
ENST00000607784.1:c.526G>T ENSP00000475569.1:p.Gly176Cys
NM_012203.1:c.526G>T NP_036335.1:p.Gly176Cys
XM_005251631.1:c.205G>T XP_005251688.1:p.Gly69Cys
XM_011518073.1:c.124G>T XP_011516375.1:p.Gly42Cys
XR_929374.1:n.971G>T
XM_017015320.2:c.526G>T XP_016870809.1:p.Gly176Cys
XM_017015321.2:c.526G>T XP_016870810.1:p.Gly176Cys
XM_017015323.2:c.124G>T XP_016870812.1:p.Gly42Cys
XM_024447716.1:c.799G>T XP_024303484.1:p.Gly267Cys
XM_024447717.1:c.799G>T XP_024303485.1:p.Gly267Cys
XR_002956828.1:n.814G>T
XR_002956829.1:n.814G>T
XR_002956830.1:n.585G>T
XR_002956831.1:n.260G>T
XR_002956832.1:n.945G>T
NM_012203.2:c.526G>T MANE Select NP_036335.1:p.Gly176Cys