Canonical Allele Identifier: CA273930

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 188765
• ClinVar RCV Id: RCV000169087 ; RCV002517625
• dbSNP Id: rs180177307
• gnomAD v2: 9-37426584-G-A
• gnomAD v3: 9-37426587-G-A
• gnomAD v4: 9-37426587-G-A
• MyVariant Identifiers: chr9:g.37426584G>A (hg19) ; chr9:g.37426587G>A (hg38)
• PubMed: PMID:17510093

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426587G>A , CM000671.2:g.37426587G>A	GRCh38
NC_000009.11:g.37426584G>A , CM000671.1:g.37426584G>A	GRCh37
NC_000009.10:g.37416584G>A	NCBI36
NG_008135.1:g.8878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.337G>A MANE Select	ENSP00000313432.6:p.Glu113Lys
ENST00000318158.10:c.337G>A	ENSP00000313432.6:p.Glu113Lys
ENST00000377824.8:n.374G>A
ENST00000460882.5:n.364G>A
ENST00000487399.5:n.889G>A
ENST00000491488.5:n.110-1897G>A
ENST00000493368.5:n.394G>A
ENST00000607784.1:c.337G>A	ENSP00000475569.1:p.Glu113Lys
NM_012203.1:c.337G>A	NP_036335.1:p.Glu113Lys
XM_005251631.1:c.84-1897G>A	XP_005251688.1:n.84-1897G>A
XM_011518073.1:c.-426G>A	XP_011516375.1:n.-426G>A
XR_929374.1:n.422G>A
XM_017015320.2:c.337G>A	XP_016870809.1:p.Glu113Lys
XM_017015321.2:c.337G>A	XP_016870810.1:p.Glu113Lys
XM_017015323.2:c.-426G>A	XP_016870812.1:n.-426G>A
XM_024447716.1:c.610G>A	XP_024303484.1:p.Glu204Lys
XM_024447717.1:c.610G>A	XP_024303485.1:p.Glu204Lys
XR_002956828.1:n.625G>A
XR_002956829.1:n.625G>A
XR_002956830.1:n.396G>A
XR_002956831.1:n.139-1897G>A
XR_002956832.1:n.396G>A
NM_012203.2:c.337G>A MANE Select	NP_036335.1:p.Glu113Lys