Canonical Allele Identifier: CA373443440

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37429793G>T (hg19) ; chr9:g.37429796G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429796G>T , CM000671.2:g.37429796G>T	GRCh38
NC_000009.11:g.37429793G>T , CM000671.1:g.37429793G>T	GRCh37
NC_000009.10:g.37419793G>T	NCBI36
NG_008135.1:g.12087G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.558G>T MANE Select	ENSP00000313432.6:p.Gln186His
ENST00000318158.10:c.558G>T	ENSP00000313432.6:p.Gln186His
ENST00000377824.8:n.595G>T
ENST00000460882.5:n.585G>T
ENST00000480596.5:n.1259G>T
ENST00000482603.1:n.11G>T
ENST00000491488.5:n.263G>T
ENST00000494290.1:c.129G>T	ENSP00000432021.1:p.Gln43His
ENST00000497693.1:n.2091G>T
ENST00000607784.1:c.558G>T	ENSP00000475569.1:p.Gln186His
NM_012203.1:c.558G>T	NP_036335.1:p.Gln186His
XM_005251631.1:c.237G>T	XP_005251688.1:p.Gln79His
XM_011518073.1:c.156G>T	XP_011516375.1:p.Gln52His
XR_929374.1:n.1003G>T
XM_017015320.2:c.558G>T	XP_016870809.1:p.Gln186His
XM_017015321.2:c.558G>T	XP_016870810.1:p.Gln186His
XM_017015323.2:c.156G>T	XP_016870812.1:p.Gln52His
XM_024447716.1:c.831G>T	XP_024303484.1:p.Gln277His
XM_024447717.1:c.831G>T	XP_024303485.1:p.Gln277His
XR_002956828.1:n.846G>T
XR_002956829.1:n.846G>T
XR_002956830.1:n.617G>T
XR_002956831.1:n.292G>T
XR_002956832.1:n.977G>T
NM_012203.2:c.558G>T MANE Select	NP_036335.1:p.Gln186His