Canonical Allele Identifier: CA863755210
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1281430194
gnomAD v3: 9-37422696-A-G
gnomAD v4: 9-37422696-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37422696A>G , CM000671.2:g.37422696A>G GRCh38
NC_000009.11:g.37422693A>G , CM000671.1:g.37422693A>G GRCh37
NC_000009.10:g.37412693A>G NCBI36
NG_008135.1:g.4987A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.-55A>G MANE Select ENSP00000313432.6:n.-55A>G
ENST00000318158.10:c.-55A>G ENSP00000313432.6:n.-55A>G
ENST00000460882.5:n.1A>G
ENST00000493368.5:n.31A>G
XM_005251631.1:c.-55A>G XP_005251688.1:n.-55A>G
XR_929374.1:n.31A>G
XM_017015320.2:c.-55A>G XP_016870809.1:n.-55A>G
XM_017015321.2:c.-55A>G XP_016870810.1:n.-55A>G
XM_017015323.2:c.-817A>G XP_016870812.1:n.-817A>G
XM_024447716.1:c.247A>G XP_024303484.1:p.Thr83Ala
XM_024447717.1:c.247A>G XP_024303485.1:p.Thr83Ala
XR_002956828.1:n.262A>G
XR_002956829.1:n.262A>G
XR_002956830.1:n.5A>G
XR_002956831.1:n.1A>G
XR_002956832.1:n.5A>G
NM_012203.2:c.-55A>G MANE Select NP_036335.1:n.-55A>G