Canonical Allele Identifier: CA587805496
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1207622008
gnomAD v2: 9-37436798-G-C
gnomAD v3: 9-37436801-G-C
gnomAD v4: 9-37436801-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436801G>C , CM000671.2:g.37436801G>C GRCh38
NC_000009.11:g.37436798G>C , CM000671.1:g.37436798G>C GRCh37
NC_000009.10:g.37426798G>C NCBI36
NG_008135.1:g.19092G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.*19G>C MANE Select ENSP00000313432.6:n.*19G>C
ENST00000318158.10:c.*19G>C ENSP00000313432.6:n.*19G>C
ENST00000460882.5:n.1033G>C
ENST00000480596.5:n.1707G>C
ENST00000494290.1:c.*52-80G>C ENSP00000432021.1:n.*52-80G>C
ENST00000497693.1:n.4574G>C
NM_012203.1:c.*19G>C NP_036335.1:n.*19G>C
XM_005251631.1:c.*19G>C XP_005251688.1:n.*19G>C
XM_011518073.1:c.*19G>C XP_011516375.1:n.*19G>C
XM_017015320.2:c.946-610G>C XP_016870809.1:n.946-610G>C
XM_017015321.2:c.866-610G>C XP_016870810.1:n.866-610G>C
XM_017015323.2:c.544-610G>C XP_016870812.1:n.544-610G>C
XM_024447716.1:c.1219-610G>C XP_024303484.1:n.1219-610G>C
XM_024447717.1:c.1139-610G>C XP_024303485.1:n.1139-610G>C
XR_002956828.1:n.1234-610G>C
XR_002956829.1:n.1154-610G>C
XR_002956830.1:n.2426G>C
XR_002956831.1:n.2101G>C
XR_002956832.1:n.1425G>C
NM_012203.2:c.*19G>C MANE Select NP_036335.1:n.*19G>C