Canonical Allele Identifier: CA373443591

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37429830T>A (hg19) ; chr9:g.37429833T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429833T>A , CM000671.2:g.37429833T>A	GRCh38
NC_000009.11:g.37429830T>A , CM000671.1:g.37429830T>A	GRCh37
NC_000009.10:g.37419830T>A	NCBI36
NG_008135.1:g.12124T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.595T>A MANE Select	ENSP00000313432.6:p.Phe199Ile
ENST00000318158.10:c.595T>A	ENSP00000313432.6:p.Phe199Ile
ENST00000377824.8:n.632T>A
ENST00000460882.5:n.622T>A
ENST00000480596.5:n.1296T>A
ENST00000482603.1:n.48T>A
ENST00000491488.5:n.300T>A
ENST00000494290.1:c.166T>A	ENSP00000432021.1:p.Phe56Ile
ENST00000497693.1:n.2128T>A
ENST00000607784.1:c.595T>A	ENSP00000475569.1:p.Phe199Ile
NM_012203.1:c.595T>A	NP_036335.1:p.Phe199Ile
XM_005251631.1:c.274T>A	XP_005251688.1:p.Phe92Ile
XM_011518073.1:c.193T>A	XP_011516375.1:p.Phe65Ile
XR_929374.1:n.1040T>A
XM_017015320.2:c.595T>A	XP_016870809.1:p.Phe199Ile
XM_017015321.2:c.595T>A	XP_016870810.1:p.Phe199Ile
XM_017015323.2:c.193T>A	XP_016870812.1:p.Phe65Ile
XM_024447716.1:c.868T>A	XP_024303484.1:p.Phe290Ile
XM_024447717.1:c.868T>A	XP_024303485.1:p.Phe290Ile
XR_002956828.1:n.883T>A
XR_002956829.1:n.883T>A
XR_002956830.1:n.654T>A
XR_002956831.1:n.329T>A
XR_002956832.1:n.1014T>A
NM_012203.2:c.595T>A MANE Select	NP_036335.1:p.Phe199Ile