Canonical Allele Identifier: CA373443424

Gene: GRHPR

Linked Data

• dbSNP Id: rs748100930
• gnomAD v3: 9-37429791-C-A
• gnomAD v4: 9-37429791-C-A
• MyVariant Identifiers: chr9:g.37429788C>A (hg19) ; chr9:g.37429791C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429791C>A , CM000671.2:g.37429791C>A	GRCh38
NC_000009.11:g.37429788C>A , CM000671.1:g.37429788C>A	GRCh37
NC_000009.10:g.37419788C>A	NCBI36
NG_008135.1:g.12082C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.553C>A MANE Select	ENSP00000313432.6:p.Arg185Ser
ENST00000318158.10:c.553C>A	ENSP00000313432.6:p.Arg185Ser
ENST00000377824.8:n.590C>A
ENST00000460882.5:n.580C>A
ENST00000480596.5:n.1254C>A
ENST00000482603.1:n.6C>A
ENST00000491488.5:n.258C>A
ENST00000494290.1:c.124C>A	ENSP00000432021.1:p.Arg42Ser
ENST00000497693.1:n.2086C>A
ENST00000607784.1:c.553C>A	ENSP00000475569.1:p.Arg185Ser
NM_012203.1:c.553C>A	NP_036335.1:p.Arg185Ser
XM_005251631.1:c.232C>A	XP_005251688.1:p.Arg78Ser
XM_011518073.1:c.151C>A	XP_011516375.1:p.Arg51Ser
XR_929374.1:n.998C>A
XM_017015320.2:c.553C>A	XP_016870809.1:p.Arg185Ser
XM_017015321.2:c.553C>A	XP_016870810.1:p.Arg185Ser
XM_017015323.2:c.151C>A	XP_016870812.1:p.Arg51Ser
XM_024447716.1:c.826C>A	XP_024303484.1:p.Arg276Ser
XM_024447717.1:c.826C>A	XP_024303485.1:p.Arg276Ser
XR_002956828.1:n.841C>A
XR_002956829.1:n.841C>A
XR_002956830.1:n.612C>A
XR_002956831.1:n.287C>A
XR_002956832.1:n.972C>A
NM_012203.2:c.553C>A MANE Select	NP_036335.1:p.Arg185Ser