Canonical Allele Identifier: CA1846886000

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436773C= , CM000671.2:g.37436773C=	GRCh38
NC_000009.11:g.37436770C= , CM000671.1:g.37436770C=	GRCh37
NC_000009.10:g.37426770C=	NCBI36
NG_008135.1:g.19064C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.978C= MANE Select	ENSP00000313432.6:p.Leu326=
ENST00000318158.10:c.978C=	ENSP00000313432.6:p.Leu326=
ENST00000460882.5:n.1005C=
ENST00000480596.5:n.1679C=
ENST00000494290.1:c.*52-108C=	ENSP00000432021.1:n.*52-108C=
ENST00000497693.1:n.4546C=
NM_012203.1:c.978C=	NP_036335.1:p.Leu326=
XM_005251631.1:c.657C=	XP_005251688.1:p.Leu219=
XM_011518073.1:c.576C=	XP_011516375.1:p.Leu192=
XM_017015320.2:c.946-638C=	XP_016870809.1:n.946-638C=
XM_017015321.2:c.866-638C=	XP_016870810.1:n.866-638C=
XM_017015323.2:c.544-638C=	XP_016870812.1:n.544-638C=
XM_024447716.1:c.1219-638C=	XP_024303484.1:n.1219-638C=
XM_024447717.1:c.1139-638C=	XP_024303485.1:n.1139-638C=
XR_002956828.1:n.1234-638C=
XR_002956829.1:n.1154-638C=
XR_002956830.1:n.2398C=
XR_002956831.1:n.2073C=
XR_002956832.1:n.1397C=
NM_012203.2:c.978C= MANE Select	NP_036335.1:p.Leu326=