Canonical Allele Identifier: CA373443458

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429802-G-T
• MyVariant Identifiers: chr9:g.37429799G>T (hg19) ; chr9:g.37429802G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429802G>T , CM000671.2:g.37429802G>T	GRCh38
NC_000009.11:g.37429799G>T , CM000671.1:g.37429799G>T	GRCh37
NC_000009.10:g.37419799G>T	NCBI36
NG_008135.1:g.12093G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.564G>T MANE Select	ENSP00000313432.6:p.Arg188Ser
ENST00000318158.10:c.564G>T	ENSP00000313432.6:p.Arg188Ser
ENST00000377824.8:n.601G>T
ENST00000460882.5:n.591G>T
ENST00000480596.5:n.1265G>T
ENST00000482603.1:n.17G>T
ENST00000491488.5:n.269G>T
ENST00000494290.1:c.135G>T	ENSP00000432021.1:p.Arg45Ser
ENST00000497693.1:n.2097G>T
ENST00000607784.1:c.564G>T	ENSP00000475569.1:p.Arg188Ser
NM_012203.1:c.564G>T	NP_036335.1:p.Arg188Ser
XM_005251631.1:c.243G>T	XP_005251688.1:p.Arg81Ser
XM_011518073.1:c.162G>T	XP_011516375.1:p.Arg54Ser
XR_929374.1:n.1009G>T
XM_017015320.2:c.564G>T	XP_016870809.1:p.Arg188Ser
XM_017015321.2:c.564G>T	XP_016870810.1:p.Arg188Ser
XM_017015323.2:c.162G>T	XP_016870812.1:p.Arg54Ser
XM_024447716.1:c.837G>T	XP_024303484.1:p.Arg279Ser
XM_024447717.1:c.837G>T	XP_024303485.1:p.Arg279Ser
XR_002956828.1:n.852G>T
XR_002956829.1:n.852G>T
XR_002956830.1:n.623G>T
XR_002956831.1:n.298G>T
XR_002956832.1:n.983G>T
NM_012203.2:c.564G>T MANE Select	NP_036335.1:p.Arg188Ser