Canonical Allele Identifier: CA5058939

Gene: GRHPR

Linked Data

• dbSNP Id: rs749990630
• ExAC: 9:37424912 G / A
• gnomAD v2: 9-37424912-G-A
• gnomAD v3: 9-37424915-G-A
• gnomAD v4: 9-37424915-G-A
• MyVariant Identifiers: chr9:g.37424912G>A (hg19) ; chr9:g.37424915G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424915G>A , CM000671.2:g.37424915G>A	GRCh38
NC_000009.11:g.37424912G>A , CM000671.1:g.37424912G>A	GRCh37
NC_000009.10:g.37414912G>A	NCBI36
NG_008135.1:g.7206G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.154G>A MANE Select	ENSP00000313432.6:p.Ala52Thr
ENST00000318158.10:c.154G>A	ENSP00000313432.6:p.Ala52Thr
ENST00000377824.8:n.191G>A
ENST00000460882.5:n.181G>A
ENST00000487399.5:n.163G>A
ENST00000491488.5:n.109+2082G>A
ENST00000493368.5:n.211G>A
ENST00000607784.1:c.154G>A	ENSP00000475569.1:p.Ala52Thr
NM_012203.1:c.154G>A	NP_036335.1:p.Ala52Thr
XM_005251631.1:c.83+2082G>A	XP_005251688.1:n.83+2082G>A
XM_011518073.1:c.-609G>A	XP_011516375.1:n.-609G>A
XR_929374.1:n.239G>A
XM_017015320.2:c.154G>A	XP_016870809.1:p.Ala52Thr
XM_017015321.2:c.154G>A	XP_016870810.1:p.Ala52Thr
XM_017015323.2:c.-609G>A	XP_016870812.1:n.-609G>A
XM_024447716.1:c.427G>A	XP_024303484.1:p.Ala143Thr
XM_024447717.1:c.427G>A	XP_024303485.1:p.Ala143Thr
XR_002956828.1:n.442G>A
XR_002956829.1:n.442G>A
XR_002956830.1:n.213G>A
XR_002956831.1:n.138+2082G>A
XR_002956832.1:n.213G>A
NM_012203.2:c.154G>A MANE Select	NP_036335.1:p.Ala52Thr