Canonical Allele Identifier: CA5059254

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432015G>A , CM000671.2:g.37432015G>A	GRCh38
NC_000009.11:g.37432012G>A , CM000671.1:g.37432012G>A	GRCh37
NC_000009.10:g.37422012G>A	NCBI36
NG_008135.1:g.14306G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.742G>A MANE Select	NP_036335.1:p.Val248Ile
ENST00000318158.11:c.742G>A MANE Select	ENSP00000313432.6:p.Val248Ile
NM_012203.1:c.742G>A	NP_036335.1:p.Val248Ile
ENST00000318158.10:c.742G>A	ENSP00000313432.6:p.Val248Ile
ENST00000460882.5:n.769G>A
ENST00000480596.5:n.1443G>A
ENST00000482603.1:n.195G>A
ENST00000491488.5:n.447G>A
ENST00000494290.1:c.*51+864G>A	ENSP00000432021.1:n.*51+864G>A
ENST00000497693.1:n.4310G>A
ENST00000607784.1:c.742G>A	ENSP00000475569.1:p.Val248Ile
XM_005251631.1:c.421G>A	XP_005251688.1:p.Val141Ile
XM_011518073.1:c.340G>A	XP_011516375.1:p.Val114Ile
XM_017015320.2:c.742G>A	XP_016870809.1:p.Val248Ile
XM_017015321.2:c.742G>A	XP_016870810.1:p.Val248Ile
XM_017015323.2:c.340G>A	XP_016870812.1:p.Val114Ile
XM_024447716.1:c.1015G>A	XP_024303484.1:p.Val339Ile
XM_024447717.1:c.1015G>A	XP_024303485.1:p.Val339Ile
XR_002956828.1:n.1030G>A
XR_002956829.1:n.1030G>A
XR_002956830.1:n.2162G>A
XR_002956831.1:n.1837G>A
XR_002956832.1:n.1161G>A