Canonical Allele Identifier: CA1846885593

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436668G= , CM000671.2:g.37436668G=	GRCh38
NC_000009.11:g.37436665G= , CM000671.1:g.37436665G=	GRCh37
NC_000009.10:g.37426665G=	NCBI36
NG_008135.1:g.18959G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.873G= MANE Select	ENSP00000313432.6:p.Leu291=
ENST00000318158.10:c.873G=	ENSP00000313432.6:p.Leu291=
ENST00000460882.5:n.900G=
ENST00000480596.5:n.1574G=
ENST00000491488.5:n.578G=
ENST00000494290.1:c.*52-213G=	ENSP00000432021.1:n.*52-213G=
ENST00000497693.1:n.4441G=
NM_012203.1:c.873G=	NP_036335.1:p.Leu291=
XM_005251631.1:c.552G=	XP_005251688.1:p.Leu184=
XM_011518073.1:c.471G=	XP_011516375.1:p.Leu157=
XM_017015320.2:c.946-743G=	XP_016870809.1:n.946-743G=
XM_017015321.2:c.866-743G=	XP_016870810.1:n.866-743G=
XM_017015323.2:c.544-743G=	XP_016870812.1:n.544-743G=
XM_024447716.1:c.1219-743G=	XP_024303484.1:n.1219-743G=
XM_024447717.1:c.1139-743G=	XP_024303485.1:n.1139-743G=
XR_002956828.1:n.1234-743G=
XR_002956829.1:n.1154-743G=
XR_002956830.1:n.2293G=
XR_002956831.1:n.1968G=
XR_002956832.1:n.1292G=
NM_012203.2:c.873G= MANE Select	NP_036335.1:p.Leu291=