Canonical Allele Identifier: CA5059143

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1748186
• ClinVar RCV Id: RCV002351876 ; RCV003096786
• dbSNP Id: rs748100930
• ExAC: 9:37429788 C / T
• gnomAD v2: 9-37429788-C-T
• gnomAD v3: 9-37429791-C-T
• gnomAD v4: 9-37429791-C-T
• MyVariant Identifiers: chr9:g.37429788C>T (hg19) ; chr9:g.37429791C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.553C>T MANE Select	ENSP00000313432.6:p.Arg185Cys
ENST00000318158.10:c.553C>T	ENSP00000313432.6:p.Arg185Cys
ENST00000377824.8:n.590C>T
ENST00000460882.5:n.580C>T
ENST00000480596.5:n.1254C>T
ENST00000482603.1:n.6C>T
ENST00000491488.5:n.258C>T
ENST00000494290.1:c.124C>T	ENSP00000432021.1:p.Arg42Cys
ENST00000497693.1:n.2086C>T
ENST00000607784.1:c.553C>T	ENSP00000475569.1:p.Arg185Cys
NM_012203.1:c.553C>T	NP_036335.1:p.Arg185Cys
XM_005251631.1:c.232C>T	XP_005251688.1:p.Arg78Cys
XM_011518073.1:c.151C>T	XP_011516375.1:p.Arg51Cys
XR_929374.1:n.998C>T
XM_017015320.2:c.553C>T	XP_016870809.1:p.Arg185Cys
XM_017015321.2:c.553C>T	XP_016870810.1:p.Arg185Cys
XM_017015323.2:c.151C>T	XP_016870812.1:p.Arg51Cys
XM_024447716.1:c.826C>T	XP_024303484.1:p.Arg276Cys
XM_024447717.1:c.826C>T	XP_024303485.1:p.Arg276Cys
XR_002956828.1:n.841C>T
XR_002956829.1:n.841C>T
XR_002956830.1:n.612C>T
XR_002956831.1:n.287C>T
XR_002956832.1:n.972C>T
NM_012203.2:c.553C>T MANE Select	NP_036335.1:p.Arg185Cys