Canonical Allele Identifier: CA373441586

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424931G>A , CM000671.2:g.37424931G>A	GRCh38
NC_000009.11:g.37424928G>A , CM000671.1:g.37424928G>A	GRCh37
NC_000009.10:g.37414928G>A	NCBI36
NG_008135.1:g.7222G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.170G>A MANE Select	NP_036335.1:p.Cys57Tyr
ENST00000318158.11:c.170G>A MANE Select	ENSP00000313432.6:p.Cys57Tyr
NM_012203.1:c.170G>A	NP_036335.1:p.Cys57Tyr
ENST00000318158.10:c.170G>A	ENSP00000313432.6:p.Cys57Tyr
ENST00000377824.8:n.207G>A
ENST00000460882.5:n.197G>A
ENST00000487399.5:n.179G>A
ENST00000491488.5:n.109+2098G>A
ENST00000493368.5:n.227G>A
ENST00000607784.1:c.170G>A	ENSP00000475569.1:p.Cys57Tyr
XM_005251631.1:c.83+2098G>A	XP_005251688.1:n.83+2098G>A
XM_011518073.1:c.-593G>A	XP_011516375.1:n.-593G>A
XM_017015320.2:c.170G>A	XP_016870809.1:p.Cys57Tyr
XM_017015321.2:c.170G>A	XP_016870810.1:p.Cys57Tyr
XM_017015323.2:c.-593G>A	XP_016870812.1:n.-593G>A
XM_024447716.1:c.443G>A	XP_024303484.1:p.Cys148Tyr
XM_024447717.1:c.443G>A	XP_024303485.1:p.Cys148Tyr
XR_002956828.1:n.458G>A
XR_002956829.1:n.458G>A
XR_002956830.1:n.229G>A
XR_002956831.1:n.138+2098G>A
XR_002956832.1:n.229G>A
XR_929374.1:n.255G>A