Canonical Allele Identifier: CA5058931

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424900C>T , CM000671.2:g.37424900C>T	GRCh38
NC_000009.11:g.37424897C>T , CM000671.1:g.37424897C>T	GRCh37
NC_000009.10:g.37414897C>T	NCBI36
NG_008135.1:g.7191C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.139C>T MANE Select	NP_036335.1:p.Arg47Ter
ENST00000318158.11:c.139C>T MANE Select	ENSP00000313432.6:p.Arg47Ter
NM_012203.1:c.139C>T	NP_036335.1:p.Arg47Ter
ENST00000318158.10:c.139C>T	ENSP00000313432.6:p.Arg47Ter
ENST00000377824.8:n.176C>T
ENST00000460882.5:n.166C>T
ENST00000487399.5:n.148C>T
ENST00000491488.5:n.109+2067C>T
ENST00000493368.5:n.196C>T
ENST00000607784.1:c.139C>T	ENSP00000475569.1:p.Arg47Ter
XM_005251631.1:c.83+2067C>T	XP_005251688.1:n.83+2067C>T
XM_011518073.1:c.-624C>T	XP_011516375.1:n.-624C>T
XM_017015320.2:c.139C>T	XP_016870809.1:p.Arg47Ter
XM_017015321.2:c.139C>T	XP_016870810.1:p.Arg47Ter
XM_017015323.2:c.-624C>T	XP_016870812.1:n.-624C>T
XM_024447716.1:c.412C>T	XP_024303484.1:p.Arg138Ter
XM_024447717.1:c.412C>T	XP_024303485.1:p.Arg138Ter
XR_002956828.1:n.427C>T
XR_002956829.1:n.427C>T
XR_002956830.1:n.198C>T
XR_002956831.1:n.138+2067C>T
XR_002956832.1:n.198C>T
XR_929374.1:n.224C>T