Canonical Allele Identifier: CA5058976

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 3005768
• ClinVar RCV Id: RCV003863855
• dbSNP Id: rs765662792
• ExAC: 9:37426000 A / G
• gnomAD v2: 9-37426000-A-G
• gnomAD v3: 9-37426003-A-G
• gnomAD v4: 9-37426003-A-G
• MyVariant Identifiers: chr9:g.37426000A>G (hg19) ; chr9:g.37426003A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426003A>G , CM000671.2:g.37426003A>G	GRCh38
NC_000009.11:g.37426000A>G , CM000671.1:g.37426000A>G	GRCh37
NC_000009.10:g.37416000A>G	NCBI36
NG_008135.1:g.8294A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.287+9A>G MANE Select	ENSP00000313432.6:n.287+9A>G
ENST00000318158.10:c.287+9A>G	ENSP00000313432.6:n.287+9A>G
ENST00000377824.8:n.324+9A>G
ENST00000460882.5:n.314+9A>G
ENST00000487399.5:n.305A>G
ENST00000491488.5:n.110-2481A>G
ENST00000493368.5:n.344+9A>G
ENST00000607784.1:c.287+9A>G	ENSP00000475569.1:n.287+9A>G
NM_012203.1:c.287+9A>G	NP_036335.1:n.287+9A>G
XM_005251631.1:c.84-2481A>G	XP_005251688.1:n.84-2481A>G
XM_011518073.1:c.-476+9A>G	XP_011516375.1:n.-476+9A>G
XR_929374.1:n.372+9A>G
XM_017015320.2:c.287+9A>G	XP_016870809.1:n.287+9A>G
XM_017015321.2:c.287+9A>G	XP_016870810.1:n.287+9A>G
XM_017015323.2:c.-476+9A>G	XP_016870812.1:n.-476+9A>G
XM_024447716.1:c.560+9A>G	XP_024303484.1:n.560+9A>G
XM_024447717.1:c.560+9A>G	XP_024303485.1:n.560+9A>G
XR_002956828.1:n.575+9A>G
XR_002956829.1:n.575+9A>G
XR_002956830.1:n.346+9A>G
XR_002956831.1:n.139-2481A>G
XR_002956832.1:n.346+9A>G
NM_012203.2:c.287+9A>G MANE Select	NP_036335.1:n.287+9A>G