Canonical Allele Identifier: CA373443427

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37429789G>T (hg19) ; chr9:g.37429792G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429792G>T , CM000671.2:g.37429792G>T	GRCh38
NC_000009.11:g.37429789G>T , CM000671.1:g.37429789G>T	GRCh37
NC_000009.10:g.37419789G>T	NCBI36
NG_008135.1:g.12083G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.554G>T MANE Select	ENSP00000313432.6:p.Arg185Leu
ENST00000318158.10:c.554G>T	ENSP00000313432.6:p.Arg185Leu
ENST00000377824.8:n.591G>T
ENST00000460882.5:n.581G>T
ENST00000480596.5:n.1255G>T
ENST00000482603.1:n.7G>T
ENST00000491488.5:n.259G>T
ENST00000494290.1:c.125G>T	ENSP00000432021.1:p.Arg42Leu
ENST00000497693.1:n.2087G>T
ENST00000607784.1:c.554G>T	ENSP00000475569.1:p.Arg185Leu
NM_012203.1:c.554G>T	NP_036335.1:p.Arg185Leu
XM_005251631.1:c.233G>T	XP_005251688.1:p.Arg78Leu
XM_011518073.1:c.152G>T	XP_011516375.1:p.Arg51Leu
XR_929374.1:n.999G>T
XM_017015320.2:c.554G>T	XP_016870809.1:p.Arg185Leu
XM_017015321.2:c.554G>T	XP_016870810.1:p.Arg185Leu
XM_017015323.2:c.152G>T	XP_016870812.1:p.Arg51Leu
XM_024447716.1:c.827G>T	XP_024303484.1:p.Arg276Leu
XM_024447717.1:c.827G>T	XP_024303485.1:p.Arg276Leu
XR_002956828.1:n.842G>T
XR_002956829.1:n.842G>T
XR_002956830.1:n.613G>T
XR_002956831.1:n.288G>T
XR_002956832.1:n.973G>T
NM_012203.2:c.554G>T MANE Select	NP_036335.1:p.Arg185Leu