Canonical Allele Identifier: CA373443323

Gene: GRHPR

Linked Data

• dbSNP Id: rs749885934
• MyVariant Identifiers: chr9:g.37429760C>G (hg19) ; chr9:g.37429763C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429763C>G , CM000671.2:g.37429763C>G	GRCh38
NC_000009.11:g.37429760C>G , CM000671.1:g.37429760C>G	GRCh37
NC_000009.10:g.37419760C>G	NCBI36
NG_008135.1:g.12054C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.525C>G MANE Select	ENSP00000313432.6:p.Phe175Leu
ENST00000318158.10:c.525C>G	ENSP00000313432.6:p.Phe175Leu
ENST00000377824.8:n.562C>G
ENST00000460882.5:n.552C>G
ENST00000480596.5:n.1226C>G
ENST00000491488.5:n.230C>G
ENST00000494290.1:c.96C>G	ENSP00000432021.1:p.Phe32Leu
ENST00000497693.1:n.2058C>G
ENST00000607784.1:c.525C>G	ENSP00000475569.1:p.Phe175Leu
NM_012203.1:c.525C>G	NP_036335.1:p.Phe175Leu
XM_005251631.1:c.204C>G	XP_005251688.1:p.Phe68Leu
XM_011518073.1:c.123C>G	XP_011516375.1:p.Phe41Leu
XR_929374.1:n.970C>G
XM_017015320.2:c.525C>G	XP_016870809.1:p.Phe175Leu
XM_017015321.2:c.525C>G	XP_016870810.1:p.Phe175Leu
XM_017015323.2:c.123C>G	XP_016870812.1:p.Phe41Leu
XM_024447716.1:c.798C>G	XP_024303484.1:p.Phe266Leu
XM_024447717.1:c.798C>G	XP_024303485.1:p.Phe266Leu
XR_002956828.1:n.813C>G
XR_002956829.1:n.813C>G
XR_002956830.1:n.584C>G
XR_002956831.1:n.259C>G
XR_002956832.1:n.944C>G
NM_012203.2:c.525C>G MANE Select	NP_036335.1:p.Phe175Leu