Canonical Allele Identifier: CA5059173

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37430579G>A , CM000671.2:g.37430579G>A	GRCh38
NC_000009.11:g.37430576G>A , CM000671.1:g.37430576G>A	GRCh37
NC_000009.10:g.37420576G>A	NCBI36
NG_008135.1:g.12870G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.667G>A MANE Select	NP_036335.1:p.Glu223Lys
ENST00000318158.11:c.667G>A MANE Select	ENSP00000313432.6:p.Glu223Lys
NM_012203.1:c.667G>A	NP_036335.1:p.Glu223Lys
ENST00000318158.10:c.667G>A	ENSP00000313432.6:p.Glu223Lys
ENST00000377824.8:n.704G>A
ENST00000460882.5:n.694G>A
ENST00000480596.5:n.1368G>A
ENST00000482603.1:n.120G>A
ENST00000491488.5:n.372G>A
ENST00000494290.1:c.238G>A	ENSP00000432021.1:p.Glu80Lys
ENST00000497693.1:n.2874G>A
ENST00000607784.1:c.667G>A	ENSP00000475569.1:p.Glu223Lys
XM_005251631.1:c.346G>A	XP_005251688.1:p.Glu116Lys
XM_011518073.1:c.265G>A	XP_011516375.1:p.Glu89Lys
XM_017015320.2:c.667G>A	XP_016870809.1:p.Glu223Lys
XM_017015321.2:c.667G>A	XP_016870810.1:p.Glu223Lys
XM_017015323.2:c.265G>A	XP_016870812.1:p.Glu89Lys
XM_024447716.1:c.940G>A	XP_024303484.1:p.Glu314Lys
XM_024447717.1:c.940G>A	XP_024303485.1:p.Glu314Lys
XR_002956828.1:n.955G>A
XR_002956829.1:n.955G>A
XR_002956830.1:n.726G>A
XR_002956831.1:n.401G>A
XR_002956832.1:n.1086G>A
XR_929374.1:n.1112G>A