Canonical Allele Identifier: CA275885

Gene: GRHPR

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424964T>C , CM000671.2:g.37424964T>C	GRCh38
NC_000009.11:g.37424961T>C , CM000671.1:g.37424961T>C	GRCh37
NC_000009.10:g.37414961T>C	NCBI36
NG_008135.1:g.7255T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.203T>C MANE Select	ENSP00000313432.6:p.Leu68Pro
ENST00000318158.10:c.203T>C	ENSP00000313432.6:p.Leu68Pro
ENST00000377824.8:n.240T>C
ENST00000460882.5:n.230T>C
ENST00000487399.5:n.212T>C
ENST00000491488.5:n.109+2131T>C
ENST00000493368.5:n.260T>C
ENST00000607784.1:c.203T>C	ENSP00000475569.1:p.Leu68Pro
NM_012203.1:c.203T>C	NP_036335.1:p.Leu68Pro
XM_005251631.1:c.83+2131T>C	XP_005251688.1:n.83+2131T>C
XM_011518073.1:c.-560T>C	XP_011516375.1:n.-560T>C
XR_929374.1:n.288T>C
XM_017015320.2:c.203T>C	XP_016870809.1:p.Leu68Pro
XM_017015321.2:c.203T>C	XP_016870810.1:p.Leu68Pro
XM_017015323.2:c.-560T>C	XP_016870812.1:n.-560T>C
XM_024447716.1:c.476T>C	XP_024303484.1:p.Leu159Pro
XM_024447717.1:c.476T>C	XP_024303485.1:p.Leu159Pro
XR_002956828.1:n.491T>C
XR_002956829.1:n.491T>C
XR_002956830.1:n.262T>C
XR_002956831.1:n.138+2131T>C
XR_002956832.1:n.262T>C
NM_012203.2:c.203T>C MANE Select	NP_036335.1:p.Leu68Pro