Canonical Allele Identifier: CA1846870595

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429816C= , CM000671.2:g.37429816C=	GRCh38
NC_000009.11:g.37429813C= , CM000671.1:g.37429813C=	GRCh37
NC_000009.10:g.37419813C=	NCBI36
NG_008135.1:g.12107C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.578C= MANE Select	ENSP00000313432.6:p.Ala193=
ENST00000318158.10:c.578C=	ENSP00000313432.6:p.Ala193=
ENST00000377824.8:n.615C=
ENST00000460882.5:n.605C=
ENST00000480596.5:n.1279C=
ENST00000482603.1:n.31C=
ENST00000491488.5:n.283C=
ENST00000494290.1:c.149C=	ENSP00000432021.1:p.Ala50=
ENST00000497693.1:n.2111C=
ENST00000607784.1:c.578C=	ENSP00000475569.1:p.Ala193=
NM_012203.1:c.578C=	NP_036335.1:p.Ala193=
XM_005251631.1:c.257C=	XP_005251688.1:p.Ala86=
XM_011518073.1:c.176C=	XP_011516375.1:p.Ala59=
XR_929374.1:n.1023C=
XM_017015320.2:c.578C=	XP_016870809.1:p.Ala193=
XM_017015321.2:c.578C=	XP_016870810.1:p.Ala193=
XM_017015323.2:c.176C=	XP_016870812.1:p.Ala59=
XM_024447716.1:c.851C=	XP_024303484.1:p.Ala284=
XM_024447717.1:c.851C=	XP_024303485.1:p.Ala284=
XR_002956828.1:n.866C=
XR_002956829.1:n.866C=
XR_002956830.1:n.637C=
XR_002956831.1:n.312C=
XR_002956832.1:n.997C=
NM_012203.2:c.578C= MANE Select	NP_036335.1:p.Ala193=