Canonical Allele Identifier: CA1846874303

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432121T= , CM000671.2:g.37432121T=	GRCh38
NC_000009.11:g.37432118T= , CM000671.1:g.37432118T=	GRCh37
NC_000009.10:g.37422118T=	NCBI36
NG_008135.1:g.14412T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.848T= MANE Select	ENSP00000313432.6:p.Leu283=
ENST00000318158.10:c.848T=	ENSP00000313432.6:p.Leu283=
ENST00000460882.5:n.875T=
ENST00000480596.5:n.1549T=
ENST00000482603.1:n.301T=
ENST00000491488.5:n.553T=
ENST00000494290.1:c.*51+970T=	ENSP00000432021.1:n.*51+970T=
ENST00000497693.1:n.4416T=
ENST00000512404.2:n.35T=
ENST00000607784.1:c.848T=	ENSP00000475569.1:p.Leu283=
NM_012203.1:c.848T=	NP_036335.1:p.Leu283=
XM_005251631.1:c.527T=	XP_005251688.1:p.Leu176=
XM_011518073.1:c.446T=	XP_011516375.1:p.Leu149=
XM_017015320.2:c.848T=	XP_016870809.1:p.Leu283=
XM_017015321.2:c.848T=	XP_016870810.1:p.Leu283=
XM_017015323.2:c.446T=	XP_016870812.1:p.Leu149=
XM_024447716.1:c.1121T=	XP_024303484.1:p.Leu374=
XM_024447717.1:c.1121T=	XP_024303485.1:p.Leu374=
XR_002956828.1:n.1136T=
XR_002956829.1:n.1136T=
XR_002956830.1:n.2268T=
XR_002956831.1:n.1943T=
XR_002956832.1:n.1267T=
NM_012203.2:c.848T= MANE Select	NP_036335.1:p.Leu283=