Canonical Allele Identifier: CA1846885781

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436735C= , CM000671.2:g.37436735C=	GRCh38
NC_000009.11:g.37436732C= , CM000671.1:g.37436732C=	GRCh37
NC_000009.10:g.37426732C=	NCBI36
NG_008135.1:g.19026C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.940C= MANE Select	ENSP00000313432.6:p.Leu314=
ENST00000318158.10:c.940C=	ENSP00000313432.6:p.Leu314=
ENST00000460882.5:n.967C=
ENST00000480596.5:n.1641C=
ENST00000494290.1:c.*52-146C=	ENSP00000432021.1:n.*52-146C=
ENST00000497693.1:n.4508C=
NM_012203.1:c.940C=	NP_036335.1:p.Leu314=
XM_005251631.1:c.619C=	XP_005251688.1:p.Leu207=
XM_011518073.1:c.538C=	XP_011516375.1:p.Leu180=
XM_017015320.2:c.946-676C=	XP_016870809.1:n.946-676C=
XM_017015321.2:c.866-676C=	XP_016870810.1:n.866-676C=
XM_017015323.2:c.544-676C=	XP_016870812.1:n.544-676C=
XM_024447716.1:c.1219-676C=	XP_024303484.1:n.1219-676C=
XM_024447717.1:c.1139-676C=	XP_024303485.1:n.1139-676C=
XR_002956828.1:n.1234-676C=
XR_002956829.1:n.1154-676C=
XR_002956830.1:n.2360C=
XR_002956831.1:n.2035C=
XR_002956832.1:n.1359C=
NM_012203.2:c.940C= MANE Select	NP_036335.1:p.Leu314=