Canonical Allele Identifier: CA587804370
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1321079252
gnomAD v2: 9-37429694-G-C
gnomAD v4: 9-37429697-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429697G>C , CM000671.2:g.37429697G>C GRCh38
NC_000009.11:g.37429694G>C , CM000671.1:g.37429694G>C GRCh37
NC_000009.10:g.37419694G>C NCBI36
NG_008135.1:g.11988G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.494-35G>C MANE Select ENSP00000313432.6:n.494-35G>C
ENST00000318158.10:c.494-35G>C ENSP00000313432.6:n.494-35G>C
ENST00000377824.8:n.531-35G>C
ENST00000460882.5:n.521-35G>C
ENST00000480596.5:n.1160G>C
ENST00000491488.5:n.199-35G>C
ENST00000494290.1:c.30G>C ENSP00000432021.1:p.Gly10=
ENST00000497693.1:n.1992G>C
ENST00000607784.1:c.494-35G>C ENSP00000475569.1:n.494-35G>C
NM_012203.1:c.494-35G>C NP_036335.1:n.494-35G>C
XM_005251631.1:c.173-35G>C XP_005251688.1:n.173-35G>C
XM_011518073.1:c.92-35G>C XP_011516375.1:n.92-35G>C
XR_929374.1:n.939-35G>C
XM_017015320.2:c.494-35G>C XP_016870809.1:n.494-35G>C
XM_017015321.2:c.494-35G>C XP_016870810.1:n.494-35G>C
XM_017015323.2:c.92-35G>C XP_016870812.1:n.92-35G>C
XM_024447716.1:c.767-35G>C XP_024303484.1:n.767-35G>C
XM_024447717.1:c.767-35G>C XP_024303485.1:n.767-35G>C
XR_002956828.1:n.782-35G>C
XR_002956829.1:n.782-35G>C
XR_002956830.1:n.553-35G>C
XR_002956831.1:n.228-35G>C
XR_002956832.1:n.913-35G>C
NM_012203.2:c.494-35G>C MANE Select NP_036335.1:n.494-35G>C