Canonical Allele Identifier: CA5059357

Gene: GRHPR

Linked Data

• dbSNP Id: rs752397163
• ExAC: 9:37436782 A / G
• gnomAD v2: 9-37436782-A-G
• gnomAD v4: 9-37436785-A-G
• MyVariant Identifiers: chr9:g.37436782A>G (hg19) ; chr9:g.37436782_37436787delinsGAACAG (hg19) ; chr9:g.37436785A>G (hg38) ; chr9:g.37436785_37436790delinsGAACAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436785A>G , CM000671.2:g.37436785A>G	GRCh38
NC_000009.11:g.37436782A>G , CM000671.1:g.37436782A>G	GRCh37
NC_000009.10:g.37426782A>G	NCBI36
NG_008135.1:g.19076A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.*3A>G MANE Select	ENSP00000313432.6:n.*3A>G
ENST00000318158.10:c.*3A>G	ENSP00000313432.6:n.*3A>G
ENST00000460882.5:n.1017A>G
ENST00000480596.5:n.1691A>G
ENST00000494290.1:c.*52-96A>G	ENSP00000432021.1:n.*52-96A>G
ENST00000497693.1:n.4558A>G
NM_012203.1:c.*3A>G	NP_036335.1:n.*3A>G
XM_005251631.1:c.*3A>G	XP_005251688.1:n.*3A>G
XM_011518073.1:c.*3A>G	XP_011516375.1:n.*3A>G
XM_017015320.2:c.946-626A>G	XP_016870809.1:n.946-626A>G
XM_017015321.2:c.866-626A>G	XP_016870810.1:n.866-626A>G
XM_017015323.2:c.544-626A>G	XP_016870812.1:n.544-626A>G
XM_024447716.1:c.1219-626A>G	XP_024303484.1:n.1219-626A>G
XM_024447717.1:c.1139-626A>G	XP_024303485.1:n.1139-626A>G
XR_002956828.1:n.1234-626A>G
XR_002956829.1:n.1154-626A>G
XR_002956830.1:n.2410A>G
XR_002956831.1:n.2085A>G
XR_002956832.1:n.1409A>G
NM_012203.2:c.*3A>G MANE Select	NP_036335.1:n.*3A>G