Canonical Allele Identifier: CA1846886023

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436778T= , CM000671.2:g.37436778T=	GRCh38
NC_000009.11:g.37436775T= , CM000671.1:g.37436775T=	GRCh37
NC_000009.10:g.37426775T=	NCBI36
NG_008135.1:g.19069T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.983T= MANE Select	ENSP00000313432.6:p.Leu328=
ENST00000318158.10:c.983T=	ENSP00000313432.6:p.Leu328=
ENST00000460882.5:n.1010T=
ENST00000480596.5:n.1684T=
ENST00000494290.1:c.*52-103T=	ENSP00000432021.1:n.*52-103T=
ENST00000497693.1:n.4551T=
NM_012203.1:c.983T=	NP_036335.1:p.Leu328=
XM_005251631.1:c.662T=	XP_005251688.1:p.Leu221=
XM_011518073.1:c.581T=	XP_011516375.1:p.Leu194=
XM_017015320.2:c.946-633T=	XP_016870809.1:n.946-633T=
XM_017015321.2:c.866-633T=	XP_016870810.1:n.866-633T=
XM_017015323.2:c.544-633T=	XP_016870812.1:n.544-633T=
XM_024447716.1:c.1219-633T=	XP_024303484.1:n.1219-633T=
XM_024447717.1:c.1139-633T=	XP_024303485.1:n.1139-633T=
XR_002956828.1:n.1234-633T=
XR_002956829.1:n.1154-633T=
XR_002956830.1:n.2403T=
XR_002956831.1:n.2078T=
XR_002956832.1:n.1402T=
NM_012203.2:c.983T= MANE Select	NP_036335.1:p.Leu328=