Canonical Allele Identifier: CA465006865

Gene: GRHPR

Linked Data

• dbSNP Id: rs1463346250
• gnomAD v2: 9-37436746-A-G
• MyVariant Identifiers: chr9:g.37436746A>G (hg19) ; chr9:g.37436749A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436749A>G , CM000671.2:g.37436749A>G	GRCh38
NC_000009.11:g.37436746A>G , CM000671.1:g.37436746A>G	GRCh37
NC_000009.10:g.37426746A>G	NCBI36
NG_008135.1:g.19040A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.954A>G MANE Select	ENSP00000313432.6:p.Arg318=
ENST00000318158.10:c.954A>G	ENSP00000313432.6:p.Arg318=
ENST00000460882.5:n.981A>G
ENST00000480596.5:n.1655A>G
ENST00000494290.1:c.*52-132A>G	ENSP00000432021.1:n.*52-132A>G
ENST00000497693.1:n.4522A>G
NM_012203.1:c.954A>G	NP_036335.1:p.Arg318=
XM_005251631.1:c.633A>G	XP_005251688.1:p.Arg211=
XM_011518073.1:c.552A>G	XP_011516375.1:p.Arg184=
XM_017015320.2:c.946-662A>G	XP_016870809.1:n.946-662A>G
XM_017015321.2:c.866-662A>G	XP_016870810.1:n.866-662A>G
XM_017015323.2:c.544-662A>G	XP_016870812.1:n.544-662A>G
XM_024447716.1:c.1219-662A>G	XP_024303484.1:n.1219-662A>G
XM_024447717.1:c.1139-662A>G	XP_024303485.1:n.1139-662A>G
XR_002956828.1:n.1234-662A>G
XR_002956829.1:n.1154-662A>G
XR_002956830.1:n.2374A>G
XR_002956831.1:n.2049A>G
XR_002956832.1:n.1373A>G
NM_012203.2:c.954A>G MANE Select	NP_036335.1:p.Arg318=