Canonical Allele Identifier: CA2689952635

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37424997-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424997G>A , CM000671.2:g.37424997G>A	GRCh38
NC_000009.11:g.37424994G>A , CM000671.1:g.37424994G>A	GRCh37
NC_000009.10:g.37414994G>A	NCBI36
NG_008135.1:g.7288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.214+22G>A MANE Select	ENSP00000313432.6:n.214+22G>A
ENST00000318158.10:c.214+22G>A	ENSP00000313432.6:n.214+22G>A
ENST00000377824.8:n.251+22G>A
ENST00000460882.5:n.241+22G>A
ENST00000487399.5:n.223+22G>A
ENST00000491488.5:n.109+2164G>A
ENST00000493368.5:n.271+22G>A
ENST00000607784.1:c.214+22G>A	ENSP00000475569.1:n.214+22G>A
NM_012203.1:c.214+22G>A	NP_036335.1:n.214+22G>A
XM_005251631.1:c.83+2164G>A	XP_005251688.1:n.83+2164G>A
XM_011518073.1:c.-549+22G>A	XP_011516375.1:n.-549+22G>A
XR_929374.1:n.299+22G>A
XM_017015320.2:c.214+22G>A	XP_016870809.1:n.214+22G>A
XM_017015321.2:c.214+22G>A	XP_016870810.1:n.214+22G>A
XM_017015323.2:c.-549+22G>A	XP_016870812.1:n.-549+22G>A
XM_024447716.1:c.487+22G>A	XP_024303484.1:n.487+22G>A
XM_024447717.1:c.487+22G>A	XP_024303485.1:n.487+22G>A
XR_002956828.1:n.502+22G>A
XR_002956829.1:n.502+22G>A
XR_002956830.1:n.273+22G>A
XR_002956831.1:n.138+2164G>A
XR_002956832.1:n.273+22G>A
NM_012203.2:c.214+22G>A MANE Select	NP_036335.1:n.214+22G>A