Canonical Allele Identifier: CA373441465

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37424897-G-A
• MyVariant Identifiers: chr9:g.37424894G>A (hg19) ; chr9:g.37424897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424897G>A , CM000671.2:g.37424897G>A	GRCh38
NC_000009.11:g.37424894G>A , CM000671.1:g.37424894G>A	GRCh37
NC_000009.10:g.37414894G>A	NCBI36
NG_008135.1:g.7188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.136G>A MANE Select	ENSP00000313432.6:p.Glu46Lys
ENST00000318158.10:c.136G>A	ENSP00000313432.6:p.Glu46Lys
ENST00000377824.8:n.173G>A
ENST00000460882.5:n.163G>A
ENST00000487399.5:n.145G>A
ENST00000491488.5:n.109+2064G>A
ENST00000493368.5:n.193G>A
ENST00000607784.1:c.136G>A	ENSP00000475569.1:p.Glu46Lys
NM_012203.1:c.136G>A	NP_036335.1:p.Glu46Lys
XM_005251631.1:c.83+2064G>A	XP_005251688.1:n.83+2064G>A
XM_011518073.1:c.-627G>A	XP_011516375.1:n.-627G>A
XR_929374.1:n.221G>A
XM_017015320.2:c.136G>A	XP_016870809.1:p.Glu46Lys
XM_017015321.2:c.136G>A	XP_016870810.1:p.Glu46Lys
XM_017015323.2:c.-627G>A	XP_016870812.1:n.-627G>A
XM_024447716.1:c.409G>A	XP_024303484.1:p.Glu137Lys
XM_024447717.1:c.409G>A	XP_024303485.1:p.Glu137Lys
XR_002956828.1:n.424G>A
XR_002956829.1:n.424G>A
XR_002956830.1:n.195G>A
XR_002956831.1:n.138+2064G>A
XR_002956832.1:n.195G>A
NM_012203.2:c.136G>A MANE Select	NP_036335.1:p.Glu46Lys