Canonical Allele Identifier: CA1846886026

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436779G= , CM000671.2:g.37436779G=	GRCh38
NC_000009.11:g.37436776G= , CM000671.1:g.37436776G=	GRCh37
NC_000009.10:g.37426776G=	NCBI36
NG_008135.1:g.19070G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.984G= MANE Select	ENSP00000313432.6:p.Leu328=
ENST00000318158.10:c.984G=	ENSP00000313432.6:p.Leu328=
ENST00000460882.5:n.1011G=
ENST00000480596.5:n.1685G=
ENST00000494290.1:c.*52-102G=	ENSP00000432021.1:n.*52-102G=
ENST00000497693.1:n.4552G=
NM_012203.1:c.984G=	NP_036335.1:p.Leu328=
XM_005251631.1:c.663G=	XP_005251688.1:p.Leu221=
XM_011518073.1:c.582G=	XP_011516375.1:p.Leu194=
XM_017015320.2:c.946-632G=	XP_016870809.1:n.946-632G=
XM_017015321.2:c.866-632G=	XP_016870810.1:n.866-632G=
XM_017015323.2:c.544-632G=	XP_016870812.1:n.544-632G=
XM_024447716.1:c.1219-632G=	XP_024303484.1:n.1219-632G=
XM_024447717.1:c.1139-632G=	XP_024303485.1:n.1139-632G=
XR_002956828.1:n.1234-632G=
XR_002956829.1:n.1154-632G=
XR_002956830.1:n.2404G=
XR_002956831.1:n.2079G=
XR_002956832.1:n.1403G=
NM_012203.2:c.984G= MANE Select	NP_036335.1:p.Leu328=