Canonical Allele Identifier: CA275897
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 204238
ClinVar RCV Id: RCV000186445
dbSNP Id: rs180177324
gnomAD v4: 9-37436729-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436729A>G , CM000671.2:g.37436729A>G GRCh38
NC_000009.11:g.37436726A>G , CM000671.1:g.37436726A>G GRCh37
NC_000009.10:g.37426726A>G NCBI36
NG_008135.1:g.19020A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.934A>G MANE Select ENSP00000313432.6:p.Asn312Asp
ENST00000318158.10:c.934A>G ENSP00000313432.6:p.Asn312Asp
ENST00000460882.5:n.961A>G
ENST00000480596.5:n.1635A>G
ENST00000494290.1:c.*52-152A>G ENSP00000432021.1:n.*52-152A>G
ENST00000497693.1:n.4502A>G
NM_012203.1:c.934A>G NP_036335.1:p.Asn312Asp
XM_005251631.1:c.613A>G XP_005251688.1:p.Asn205Asp
XM_011518073.1:c.532A>G XP_011516375.1:p.Asn178Asp
XM_017015320.2:c.946-682A>G XP_016870809.1:n.946-682A>G
XM_017015321.2:c.866-682A>G XP_016870810.1:n.866-682A>G
XM_017015323.2:c.544-682A>G XP_016870812.1:n.544-682A>G
XM_024447716.1:c.1219-682A>G XP_024303484.1:n.1219-682A>G
XM_024447717.1:c.1139-682A>G XP_024303485.1:n.1139-682A>G
XR_002956828.1:n.1234-682A>G
XR_002956829.1:n.1154-682A>G
XR_002956830.1:n.2354A>G
XR_002956831.1:n.2029A>G
XR_002956832.1:n.1353A>G
NM_012203.2:c.934A>G MANE Select NP_036335.1:p.Asn312Asp