Canonical Allele Identifier: CA5059171

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37430578C>T , CM000671.2:g.37430578C>T	GRCh38
NC_000009.11:g.37430575C>T , CM000671.1:g.37430575C>T	GRCh37
NC_000009.10:g.37420575C>T	NCBI36
NG_008135.1:g.12869C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.666C>T MANE Select	NP_036335.1:p.Thr222=
ENST00000318158.11:c.666C>T MANE Select	ENSP00000313432.6:p.Thr222=
NM_012203.1:c.666C>T	NP_036335.1:p.Thr222=
ENST00000318158.10:c.666C>T	ENSP00000313432.6:p.Thr222=
ENST00000377824.8:n.703C>T
ENST00000460882.5:n.693C>T
ENST00000480596.5:n.1367C>T
ENST00000482603.1:n.119C>T
ENST00000491488.5:n.371C>T
ENST00000494290.1:c.237C>T	ENSP00000432021.1:p.Thr79=
ENST00000497693.1:n.2873C>T
ENST00000607784.1:c.666C>T	ENSP00000475569.1:p.Thr222=
XM_005251631.1:c.345C>T	XP_005251688.1:p.Thr115=
XM_011518073.1:c.264C>T	XP_011516375.1:p.Thr88=
XM_017015320.2:c.666C>T	XP_016870809.1:p.Thr222=
XM_017015321.2:c.666C>T	XP_016870810.1:p.Thr222=
XM_017015323.2:c.264C>T	XP_016870812.1:p.Thr88=
XM_024447716.1:c.939C>T	XP_024303484.1:p.Thr313=
XM_024447717.1:c.939C>T	XP_024303485.1:p.Thr313=
XR_002956828.1:n.954C>T
XR_002956829.1:n.954C>T
XR_002956830.1:n.725C>T
XR_002956831.1:n.400C>T
XR_002956832.1:n.1085C>T
XR_929374.1:n.1111C>T