Canonical Allele Identifier: CA373445303

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37436667C>A (hg19) ; chr9:g.37436670C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436670C>A , CM000671.2:g.37436670C>A	GRCh38
NC_000009.11:g.37436667C>A , CM000671.1:g.37436667C>A	GRCh37
NC_000009.10:g.37426667C>A	NCBI36
NG_008135.1:g.18961C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.875C>A MANE Select	ENSP00000313432.6:p.Pro292His
ENST00000318158.10:c.875C>A	ENSP00000313432.6:p.Pro292His
ENST00000460882.5:n.902C>A
ENST00000480596.5:n.1576C>A
ENST00000491488.5:n.580C>A
ENST00000494290.1:c.*52-211C>A	ENSP00000432021.1:n.*52-211C>A
ENST00000497693.1:n.4443C>A
NM_012203.1:c.875C>A	NP_036335.1:p.Pro292His
XM_005251631.1:c.554C>A	XP_005251688.1:p.Pro185His
XM_011518073.1:c.473C>A	XP_011516375.1:p.Pro158His
XM_017015320.2:c.946-741C>A	XP_016870809.1:n.946-741C>A
XM_017015321.2:c.866-741C>A	XP_016870810.1:n.866-741C>A
XM_017015323.2:c.544-741C>A	XP_016870812.1:n.544-741C>A
XM_024447716.1:c.1219-741C>A	XP_024303484.1:n.1219-741C>A
XM_024447717.1:c.1139-741C>A	XP_024303485.1:n.1139-741C>A
XR_002956828.1:n.1234-741C>A
XR_002956829.1:n.1154-741C>A
XR_002956830.1:n.2295C>A
XR_002956831.1:n.1970C>A
XR_002956832.1:n.1294C>A
NM_012203.2:c.875C>A MANE Select	NP_036335.1:p.Pro292His