Canonical Allele Identifier: CA5058967

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37425962C>T , CM000671.2:g.37425962C>T	GRCh38
NC_000009.11:g.37425959C>T , CM000671.1:g.37425959C>T	GRCh37
NC_000009.10:g.37415959C>T	NCBI36
NG_008135.1:g.8253C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.255C>T MANE Select	NP_036335.1:p.Ile85=
ENST00000318158.11:c.255C>T MANE Select	ENSP00000313432.6:p.Ile85=
NM_012203.1:c.255C>T	NP_036335.1:p.Ile85=
ENST00000318158.10:c.255C>T	ENSP00000313432.6:p.Ile85=
ENST00000377824.8:n.292C>T
ENST00000460882.5:n.282C>T
ENST00000487399.5:n.264C>T
ENST00000491488.5:n.110-2522C>T
ENST00000493368.5:n.312C>T
ENST00000607784.1:c.255C>T	ENSP00000475569.1:p.Ile85=
XM_005251631.1:c.84-2522C>T	XP_005251688.1:n.84-2522C>T
XM_011518073.1:c.-508C>T	XP_011516375.1:n.-508C>T
XM_017015320.2:c.255C>T	XP_016870809.1:p.Ile85=
XM_017015321.2:c.255C>T	XP_016870810.1:p.Ile85=
XM_017015323.2:c.-508C>T	XP_016870812.1:n.-508C>T
XM_024447716.1:c.528C>T	XP_024303484.1:p.Ile176=
XM_024447717.1:c.528C>T	XP_024303485.1:p.Ile176=
XR_002956828.1:n.543C>T
XR_002956829.1:n.543C>T
XR_002956830.1:n.314C>T
XR_002956831.1:n.139-2522C>T
XR_002956832.1:n.314C>T
XR_929374.1:n.340C>T