Canonical Allele Identifier: CA373443461

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429803-C-A
• MyVariant Identifiers: chr9:g.37429800C>A (hg19) ; chr9:g.37429803C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429803C>A , CM000671.2:g.37429803C>A	GRCh38
NC_000009.11:g.37429800C>A , CM000671.1:g.37429800C>A	GRCh37
NC_000009.10:g.37419800C>A	NCBI36
NG_008135.1:g.12094C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.565C>A MANE Select	ENSP00000313432.6:p.Pro189Thr
ENST00000318158.10:c.565C>A	ENSP00000313432.6:p.Pro189Thr
ENST00000377824.8:n.602C>A
ENST00000460882.5:n.592C>A
ENST00000480596.5:n.1266C>A
ENST00000482603.1:n.18C>A
ENST00000491488.5:n.270C>A
ENST00000494290.1:c.136C>A	ENSP00000432021.1:p.Pro46Thr
ENST00000497693.1:n.2098C>A
ENST00000607784.1:c.565C>A	ENSP00000475569.1:p.Pro189Thr
NM_012203.1:c.565C>A	NP_036335.1:p.Pro189Thr
XM_005251631.1:c.244C>A	XP_005251688.1:p.Pro82Thr
XM_011518073.1:c.163C>A	XP_011516375.1:p.Pro55Thr
XR_929374.1:n.1010C>A
XM_017015320.2:c.565C>A	XP_016870809.1:p.Pro189Thr
XM_017015321.2:c.565C>A	XP_016870810.1:p.Pro189Thr
XM_017015323.2:c.163C>A	XP_016870812.1:p.Pro55Thr
XM_024447716.1:c.838C>A	XP_024303484.1:p.Pro280Thr
XM_024447717.1:c.838C>A	XP_024303485.1:p.Pro280Thr
XR_002956828.1:n.853C>A
XR_002956829.1:n.853C>A
XR_002956830.1:n.624C>A
XR_002956831.1:n.299C>A
XR_002956832.1:n.984C>A
NM_012203.2:c.565C>A MANE Select	NP_036335.1:p.Pro189Thr