Canonical Allele Identifier: CA373442541

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426594C>A , CM000671.2:g.37426594C>A	GRCh38
NC_000009.11:g.37426591C>A , CM000671.1:g.37426591C>A	GRCh37
NC_000009.10:g.37416591C>A	NCBI36
NG_008135.1:g.8885C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.344C>A MANE Select	NP_036335.1:p.Ala115Glu
ENST00000318158.11:c.344C>A MANE Select	ENSP00000313432.6:p.Ala115Glu
NM_012203.1:c.344C>A	NP_036335.1:p.Ala115Glu
ENST00000318158.10:c.344C>A	ENSP00000313432.6:p.Ala115Glu
ENST00000377824.8:n.381C>A
ENST00000460882.5:n.371C>A
ENST00000487399.5:n.896C>A
ENST00000491488.5:n.110-1890C>A
ENST00000493368.5:n.401C>A
ENST00000607784.1:c.344C>A	ENSP00000475569.1:p.Ala115Glu
XM_005251631.1:c.84-1890C>A	XP_005251688.1:n.84-1890C>A
XM_011518073.1:c.-419C>A	XP_011516375.1:n.-419C>A
XM_017015320.2:c.344C>A	XP_016870809.1:p.Ala115Glu
XM_017015321.2:c.344C>A	XP_016870810.1:p.Ala115Glu
XM_017015323.2:c.-419C>A	XP_016870812.1:n.-419C>A
XM_024447716.1:c.617C>A	XP_024303484.1:p.Ala206Glu
XM_024447717.1:c.617C>A	XP_024303485.1:p.Ala206Glu
XR_002956828.1:n.632C>A
XR_002956829.1:n.632C>A
XR_002956830.1:n.403C>A
XR_002956831.1:n.139-1890C>A
XR_002956832.1:n.403C>A
XR_929374.1:n.429C>A