Canonical Allele Identifier: CA1846864965

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424925T= , CM000671.2:g.37424925T=	GRCh38
NC_000009.11:g.37424922T= , CM000671.1:g.37424922T=	GRCh37
NC_000009.10:g.37414922T=	NCBI36
NG_008135.1:g.7216T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.164T= MANE Select	ENSP00000313432.6:p.Leu55=
ENST00000318158.10:c.164T=	ENSP00000313432.6:p.Leu55=
ENST00000377824.8:n.201T=
ENST00000460882.5:n.191T=
ENST00000487399.5:n.173T=
ENST00000491488.5:n.109+2092T=
ENST00000493368.5:n.221T=
ENST00000607784.1:c.164T=	ENSP00000475569.1:p.Leu55=
NM_012203.1:c.164T=	NP_036335.1:p.Leu55=
XM_005251631.1:c.83+2092T=	XP_005251688.1:n.83+2092T=
XM_011518073.1:c.-599T=	XP_011516375.1:n.-599T=
XR_929374.1:n.249T=
XM_017015320.2:c.164T=	XP_016870809.1:p.Leu55=
XM_017015321.2:c.164T=	XP_016870810.1:p.Leu55=
XM_017015323.2:c.-599T=	XP_016870812.1:n.-599T=
XM_024447716.1:c.437T=	XP_024303484.1:p.Leu146=
XM_024447717.1:c.437T=	XP_024303485.1:p.Leu146=
XR_002956828.1:n.452T=
XR_002956829.1:n.452T=
XR_002956830.1:n.223T=
XR_002956831.1:n.138+2092T=
XR_002956832.1:n.223T=
NM_012203.2:c.164T= MANE Select	NP_036335.1:p.Leu55=