Canonical Allele Identifier: CA863723572
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1278433848
gnomAD v3: 9-37436991-G-C
gnomAD v4: 9-37436991-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436991G>C , CM000671.2:g.37436991G>C GRCh38
NC_000009.11:g.37436988G>C , CM000671.1:g.37436988G>C GRCh37
NC_000009.10:g.37426988G>C NCBI36
NG_008135.1:g.19282G>C

Transcript Alleles

HGVS Amino-acid Change
XM_005251631.1:c.*209G>C XP_005251688.1:n.*209G>C
XM_011518073.1:c.*209G>C XP_011516375.1:n.*209G>C
XM_017015320.2:c.946-420G>C XP_016870809.1:n.946-420G>C
XM_017015321.2:c.866-420G>C XP_016870810.1:n.866-420G>C
XM_017015323.2:c.544-420G>C XP_016870812.1:n.544-420G>C
XM_024447716.1:c.1219-420G>C XP_024303484.1:n.1219-420G>C
XM_024447717.1:c.1139-420G>C XP_024303485.1:n.1139-420G>C
XR_002956828.1:n.1234-420G>C
XR_002956829.1:n.1154-420G>C
XR_002956830.1:n.2616G>C
XR_002956831.1:n.2291G>C
XR_002956832.1:n.1615G>C