Canonical Allele Identifier: CA5059183

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37430647G>A , CM000671.2:g.37430647G>A	GRCh38
NC_000009.11:g.37430644G>A , CM000671.1:g.37430644G>A	GRCh37
NC_000009.10:g.37420644G>A	NCBI36
NG_008135.1:g.12938G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.734+1G>A MANE Select	NP_036335.1:n.734+1G>A
ENST00000318158.11:c.734+1G>A MANE Select	ENSP00000313432.6:n.734+1G>A
NM_012203.1:c.734+1G>A	NP_036335.1:n.734+1G>A
ENST00000318158.10:c.734+1G>A	ENSP00000313432.6:n.734+1G>A
ENST00000377824.8:n.772G>A
ENST00000460882.5:n.761+1G>A
ENST00000480596.5:n.1435+1G>A
ENST00000482603.1:n.187+1G>A
ENST00000491488.5:n.439+1G>A
ENST00000494290.1:c.306G>A	ENSP00000432021.1:p.Arg102=
ENST00000497693.1:n.2942G>A
ENST00000607784.1:c.734+1G>A	ENSP00000475569.1:n.734+1G>A
XM_005251631.1:c.413+1G>A	XP_005251688.1:n.413+1G>A
XM_011518073.1:c.332+1G>A	XP_011516375.1:n.332+1G>A
XM_017015320.2:c.734+1G>A	XP_016870809.1:n.734+1G>A
XM_017015321.2:c.734+1G>A	XP_016870810.1:n.734+1G>A
XM_017015323.2:c.332+1G>A	XP_016870812.1:n.332+1G>A
XM_024447716.1:c.1007+1G>A	XP_024303484.1:n.1007+1G>A
XM_024447717.1:c.1007+1G>A	XP_024303485.1:n.1007+1G>A
XR_002956828.1:n.1022+1G>A
XR_002956829.1:n.1022+1G>A
XR_002956830.1:n.794G>A
XR_002956831.1:n.469G>A
XR_002956832.1:n.1153+1G>A