Canonical Allele Identifier: CA373443951

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37430600T>C , CM000671.2:g.37430600T>C	GRCh38
NC_000009.11:g.37430597T>C , CM000671.1:g.37430597T>C	GRCh37
NC_000009.10:g.37420597T>C	NCBI36
NG_008135.1:g.12891T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.688T>C MANE Select	NP_036335.1:p.Phe230Leu
ENST00000318158.11:c.688T>C MANE Select	ENSP00000313432.6:p.Phe230Leu
NM_012203.1:c.688T>C	NP_036335.1:p.Phe230Leu
ENST00000318158.10:c.688T>C	ENSP00000313432.6:p.Phe230Leu
ENST00000377824.8:n.725T>C
ENST00000460882.5:n.715T>C
ENST00000480596.5:n.1389T>C
ENST00000482603.1:n.141T>C
ENST00000491488.5:n.393T>C
ENST00000494290.1:c.259T>C	ENSP00000432021.1:p.Phe87Leu
ENST00000497693.1:n.2895T>C
ENST00000607784.1:c.688T>C	ENSP00000475569.1:p.Phe230Leu
XM_005251631.1:c.367T>C	XP_005251688.1:p.Phe123Leu
XM_011518073.1:c.286T>C	XP_011516375.1:p.Phe96Leu
XM_017015320.2:c.688T>C	XP_016870809.1:p.Phe230Leu
XM_017015321.2:c.688T>C	XP_016870810.1:p.Phe230Leu
XM_017015323.2:c.286T>C	XP_016870812.1:p.Phe96Leu
XM_024447716.1:c.961T>C	XP_024303484.1:p.Phe321Leu
XM_024447717.1:c.961T>C	XP_024303485.1:p.Phe321Leu
XR_002956828.1:n.976T>C
XR_002956829.1:n.976T>C
XR_002956830.1:n.747T>C
XR_002956831.1:n.422T>C
XR_002956832.1:n.1107T>C
XR_929374.1:n.1133T>C