Canonical Allele Identifier: CA5059008

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426593G>A , CM000671.2:g.37426593G>A	GRCh38
NC_000009.11:g.37426590G>A , CM000671.1:g.37426590G>A	GRCh37
NC_000009.10:g.37416590G>A	NCBI36
NG_008135.1:g.8884G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.343G>A MANE Select	NP_036335.1:p.Ala115Thr
ENST00000318158.11:c.343G>A MANE Select	ENSP00000313432.6:p.Ala115Thr
NM_012203.1:c.343G>A	NP_036335.1:p.Ala115Thr
ENST00000318158.10:c.343G>A	ENSP00000313432.6:p.Ala115Thr
ENST00000377824.8:n.380G>A
ENST00000460882.5:n.370G>A
ENST00000487399.5:n.895G>A
ENST00000491488.5:n.110-1891G>A
ENST00000493368.5:n.400G>A
ENST00000607784.1:c.343G>A	ENSP00000475569.1:p.Ala115Thr
XM_005251631.1:c.84-1891G>A	XP_005251688.1:n.84-1891G>A
XM_011518073.1:c.-420G>A	XP_011516375.1:n.-420G>A
XM_017015320.2:c.343G>A	XP_016870809.1:p.Ala115Thr
XM_017015321.2:c.343G>A	XP_016870810.1:p.Ala115Thr
XM_017015323.2:c.-420G>A	XP_016870812.1:n.-420G>A
XM_024447716.1:c.616G>A	XP_024303484.1:p.Ala206Thr
XM_024447717.1:c.616G>A	XP_024303485.1:p.Ala206Thr
XR_002956828.1:n.631G>A
XR_002956829.1:n.631G>A
XR_002956830.1:n.402G>A
XR_002956831.1:n.139-1891G>A
XR_002956832.1:n.402G>A
XR_929374.1:n.428G>A