Canonical Allele Identifier: CA275907
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 204245
ClinVar RCV Id: RCV000186452
dbSNP Id: rs180177311
MyVariant Identifiers: chr9:g.37422792del (hg19) chr9:g.37422795del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37422795del , CM000671.2:g.37422795del GRCh38
NC_000009.11:g.37422792del , CM000671.1:g.37422792del GRCh37
NC_000009.10:g.37412792del NCBI36
NG_008135.1:g.5086del

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.45del MANE Select ENSP00000313432.6:p.Ala17ProfsTer?
ENST00000318158.10:c.45del ENSP00000313432.6:p.Ala17ProfsTer?
ENST00000377824.8:n.82del
ENST00000460882.5:n.100del
ENST00000487399.5:n.82del
ENST00000491488.5:n.71del
ENST00000493368.5:n.130del
ENST00000607784.1:c.45del ENSP00000475569.1:p.Ala17ProfsTer?
NM_012203.1:c.45del NP_036335.1:p.Ala17ProfsTer?
XM_005251631.1:c.45del XP_005251688.1:p.Ala17ProfsTer?
XM_011518073.1:c.-718del XP_011516375.1:n.-718del
XR_929374.1:n.130del
XM_017015320.2:c.45del XP_016870809.1:p.Ala17ProfsTer?
XM_017015321.2:c.45del XP_016870810.1:p.Ala17ProfsTer?
XM_017015323.2:c.-718del XP_016870812.1:n.-718del
XM_024447716.1:c.346del XP_024303484.1:p.Thr116ProfsTer21
XM_024447717.1:c.346del XP_024303485.1:p.Thr116ProfsTer21
XR_002956828.1:n.361del
XR_002956829.1:n.361del
XR_002956830.1:n.104del
XR_002956831.1:n.100del
XR_002956832.1:n.104del
NM_012203.2:c.45del MANE Select NP_036335.1:p.Ala17ProfsTer?
Search 100 bp 5'
Search 100 bp 3'