Canonical Allele Identifier: CA2970265320

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429763dup , CM000671.2:g.37429763dup	GRCh38
NC_000009.11:g.37429760dup , CM000671.1:g.37429760dup	GRCh37
NC_000009.10:g.37419760dup	NCBI36
NG_008135.1:g.12054dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.525dup MANE Select	ENSP00000313432.6:p.Gly176ArgfsTer15
ENST00000318158.10:c.525dup	ENSP00000313432.6:p.Gly176ArgfsTer15
ENST00000377824.8:n.562dup
ENST00000460882.5:n.552dup
ENST00000480596.5:n.1226dup
ENST00000491488.5:n.230dup
ENST00000494290.1:c.96dup	ENSP00000432021.1:p.Gly33ArgfsTer15
ENST00000497693.1:n.2058dup
ENST00000607784.1:c.525dup	ENSP00000475569.1:p.Gly176ArgfsTer15
NM_012203.1:c.525dup	NP_036335.1:p.Gly176ArgfsTer15
XM_005251631.1:c.204dup	XP_005251688.1:p.Gly69ArgfsTer15
XM_011518073.1:c.123dup	XP_011516375.1:p.Gly42ArgfsTer15
XR_929374.1:n.970dup
XM_017015320.2:c.525dup	XP_016870809.1:p.Gly176ArgfsTer15
XM_017015321.2:c.525dup	XP_016870810.1:p.Gly176ArgfsTer15
XM_017015323.2:c.123dup	XP_016870812.1:p.Gly42ArgfsTer15
XM_024447716.1:c.798dup	XP_024303484.1:p.Gly267ArgfsTer15
XM_024447717.1:c.798dup	XP_024303485.1:p.Gly267ArgfsTer15
XR_002956828.1:n.813dup
XR_002956829.1:n.813dup
XR_002956830.1:n.584dup
XR_002956831.1:n.259dup
XR_002956832.1:n.944dup
NM_012203.2:c.525dup MANE Select	NP_036335.1:p.Gly176ArgfsTer15