Canonical Allele Identifier: CA1123330148
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1823660146
gnomAD v3: 9-37436555-C-G
gnomAD v4: 9-37436555-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436555C>G , CM000671.2:g.37436555C>G GRCh38
NC_000009.11:g.37436552C>G , CM000671.1:g.37436552C>G GRCh37
NC_000009.10:g.37426552C>G NCBI36
NG_008135.1:g.18846C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.866-106C>G MANE Select ENSP00000313432.6:n.866-106C>G
ENST00000318158.10:c.866-106C>G ENSP00000313432.6:n.866-106C>G
ENST00000460882.5:n.893-106C>G
ENST00000480596.5:n.1567-106C>G
ENST00000491488.5:n.571-106C>G
ENST00000494290.1:c.*52-326C>G ENSP00000432021.1:n.*52-326C>G
ENST00000497693.1:n.4434-106C>G
NM_012203.1:c.866-106C>G NP_036335.1:n.866-106C>G
XM_005251631.1:c.545-106C>G XP_005251688.1:n.545-106C>G
XM_011518073.1:c.464-106C>G XP_011516375.1:n.464-106C>G
XM_017015320.2:c.946-856C>G XP_016870809.1:n.946-856C>G
XM_017015321.2:c.866-856C>G XP_016870810.1:n.866-856C>G
XM_017015323.2:c.544-856C>G XP_016870812.1:n.544-856C>G
XM_024447716.1:c.1219-856C>G XP_024303484.1:n.1219-856C>G
XM_024447717.1:c.1139-856C>G XP_024303485.1:n.1139-856C>G
XR_002956828.1:n.1234-856C>G
XR_002956829.1:n.1154-856C>G
XR_002956830.1:n.2286-106C>G
XR_002956831.1:n.1961-106C>G
XR_002956832.1:n.1285-106C>G
NM_012203.2:c.866-106C>G MANE Select NP_036335.1:n.866-106C>G