Canonical Allele Identifier: CA373444355

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432013A>C , CM000671.2:g.37432013A>C	GRCh38
NC_000009.11:g.37432010A>C , CM000671.1:g.37432010A>C	GRCh37
NC_000009.10:g.37422010A>C	NCBI36
NG_008135.1:g.14304A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.740A>C MANE Select	ENSP00000313432.6:p.Asp247Ala
ENST00000318158.10:c.740A>C	ENSP00000313432.6:p.Asp247Ala
ENST00000460882.5:n.767A>C
ENST00000480596.5:n.1441A>C
ENST00000482603.1:n.193A>C
ENST00000491488.5:n.445A>C
ENST00000494290.1:c.*51+862A>C	ENSP00000432021.1:n.*51+862A>C
ENST00000497693.1:n.4308A>C
ENST00000607784.1:c.740A>C	ENSP00000475569.1:p.Asp247Ala
NM_012203.1:c.740A>C	NP_036335.1:p.Asp247Ala
XM_005251631.1:c.419A>C	XP_005251688.1:p.Asp140Ala
XM_011518073.1:c.338A>C	XP_011516375.1:p.Asp113Ala
XM_017015320.2:c.740A>C	XP_016870809.1:p.Asp247Ala
XM_017015321.2:c.740A>C	XP_016870810.1:p.Asp247Ala
XM_017015323.2:c.338A>C	XP_016870812.1:p.Asp113Ala
XM_024447716.1:c.1013A>C	XP_024303484.1:p.Asp338Ala
XM_024447717.1:c.1013A>C	XP_024303485.1:p.Asp338Ala
XR_002956828.1:n.1028A>C
XR_002956829.1:n.1028A>C
XR_002956830.1:n.2160A>C
XR_002956831.1:n.1835A>C
XR_002956832.1:n.1159A>C
NM_012203.2:c.740A>C MANE Select	NP_036335.1:p.Asp247Ala