Canonical Allele Identifier: CA1846886018

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436777C= , CM000671.2:g.37436777C=	GRCh38
NC_000009.11:g.37436774C= , CM000671.1:g.37436774C=	GRCh37
NC_000009.10:g.37426774C=	NCBI36
NG_008135.1:g.19068C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.982C= MANE Select	ENSP00000313432.6:p.Leu328=
ENST00000318158.10:c.982C=	ENSP00000313432.6:p.Leu328=
ENST00000460882.5:n.1009C=
ENST00000480596.5:n.1683C=
ENST00000494290.1:c.*52-104C=	ENSP00000432021.1:n.*52-104C=
ENST00000497693.1:n.4550C=
NM_012203.1:c.982C=	NP_036335.1:p.Leu328=
XM_005251631.1:c.661C=	XP_005251688.1:p.Leu221=
XM_011518073.1:c.580C=	XP_011516375.1:p.Leu194=
XM_017015320.2:c.946-634C=	XP_016870809.1:n.946-634C=
XM_017015321.2:c.866-634C=	XP_016870810.1:n.866-634C=
XM_017015323.2:c.544-634C=	XP_016870812.1:n.544-634C=
XM_024447716.1:c.1219-634C=	XP_024303484.1:n.1219-634C=
XM_024447717.1:c.1139-634C=	XP_024303485.1:n.1139-634C=
XR_002956828.1:n.1234-634C=
XR_002956829.1:n.1154-634C=
XR_002956830.1:n.2402C=
XR_002956831.1:n.2077C=
XR_002956832.1:n.1401C=
NM_012203.2:c.982C= MANE Select	NP_036335.1:p.Leu328=