Canonical Allele Identifier: CA373443377

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37429774T>G (hg19) ; chr9:g.37429777T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429777T>G , CM000671.2:g.37429777T>G	GRCh38
NC_000009.11:g.37429774T>G , CM000671.1:g.37429774T>G	GRCh37
NC_000009.10:g.37419774T>G	NCBI36
NG_008135.1:g.12068T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.539T>G MANE Select	ENSP00000313432.6:p.Phe180Cys
ENST00000318158.10:c.539T>G	ENSP00000313432.6:p.Phe180Cys
ENST00000377824.8:n.576T>G
ENST00000460882.5:n.566T>G
ENST00000480596.5:n.1240T>G
ENST00000491488.5:n.244T>G
ENST00000494290.1:c.110T>G	ENSP00000432021.1:p.Phe37Cys
ENST00000497693.1:n.2072T>G
ENST00000607784.1:c.539T>G	ENSP00000475569.1:p.Phe180Cys
NM_012203.1:c.539T>G	NP_036335.1:p.Phe180Cys
XM_005251631.1:c.218T>G	XP_005251688.1:p.Phe73Cys
XM_011518073.1:c.137T>G	XP_011516375.1:p.Phe46Cys
XR_929374.1:n.984T>G
XM_017015320.2:c.539T>G	XP_016870809.1:p.Phe180Cys
XM_017015321.2:c.539T>G	XP_016870810.1:p.Phe180Cys
XM_017015323.2:c.137T>G	XP_016870812.1:p.Phe46Cys
XM_024447716.1:c.812T>G	XP_024303484.1:p.Phe271Cys
XM_024447717.1:c.812T>G	XP_024303485.1:p.Phe271Cys
XR_002956828.1:n.827T>G
XR_002956829.1:n.827T>G
XR_002956830.1:n.598T>G
XR_002956831.1:n.273T>G
XR_002956832.1:n.958T>G
NM_012203.2:c.539T>G MANE Select	NP_036335.1:p.Phe180Cys