Canonical Allele Identifier: CA373443604

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37429832T>G (hg19) ; chr9:g.37429835T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429835T>G , CM000671.2:g.37429835T>G	GRCh38
NC_000009.11:g.37429832T>G , CM000671.1:g.37429832T>G	GRCh37
NC_000009.10:g.37419832T>G	NCBI36
NG_008135.1:g.12126T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.597T>G MANE Select	ENSP00000313432.6:p.Phe199Leu
ENST00000318158.10:c.597T>G	ENSP00000313432.6:p.Phe199Leu
ENST00000377824.8:n.634T>G
ENST00000460882.5:n.624T>G
ENST00000480596.5:n.1298T>G
ENST00000482603.1:n.50T>G
ENST00000491488.5:n.302T>G
ENST00000494290.1:c.168T>G	ENSP00000432021.1:p.Phe56Leu
ENST00000497693.1:n.2130T>G
ENST00000607784.1:c.597T>G	ENSP00000475569.1:p.Phe199Leu
NM_012203.1:c.597T>G	NP_036335.1:p.Phe199Leu
XM_005251631.1:c.276T>G	XP_005251688.1:p.Phe92Leu
XM_011518073.1:c.195T>G	XP_011516375.1:p.Phe65Leu
XR_929374.1:n.1042T>G
XM_017015320.2:c.597T>G	XP_016870809.1:p.Phe199Leu
XM_017015321.2:c.597T>G	XP_016870810.1:p.Phe199Leu
XM_017015323.2:c.195T>G	XP_016870812.1:p.Phe65Leu
XM_024447716.1:c.870T>G	XP_024303484.1:p.Phe290Leu
XM_024447717.1:c.870T>G	XP_024303485.1:p.Phe290Leu
XR_002956828.1:n.885T>G
XR_002956829.1:n.885T>G
XR_002956830.1:n.656T>G
XR_002956831.1:n.331T>G
XR_002956832.1:n.1016T>G
NM_012203.2:c.597T>G MANE Select	NP_036335.1:p.Phe199Leu