Canonical Allele Identifier: CA373441415

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37424876A>C (hg19) ; chr9:g.37424879A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424879A>C , CM000671.2:g.37424879A>C	GRCh38
NC_000009.11:g.37424876A>C , CM000671.1:g.37424876A>C	GRCh37
NC_000009.10:g.37414876A>C	NCBI36
NG_008135.1:g.7170A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.118A>C MANE Select	ENSP00000313432.6:p.Ile40Leu
ENST00000318158.10:c.118A>C	ENSP00000313432.6:p.Ile40Leu
ENST00000377824.8:n.155A>C
ENST00000460882.5:n.145A>C
ENST00000487399.5:n.127A>C
ENST00000491488.5:n.109+2046A>C
ENST00000493368.5:n.175A>C
ENST00000607784.1:c.118A>C	ENSP00000475569.1:p.Ile40Leu
NM_012203.1:c.118A>C	NP_036335.1:p.Ile40Leu
XM_005251631.1:c.83+2046A>C	XP_005251688.1:n.83+2046A>C
XM_011518073.1:c.-645A>C	XP_011516375.1:n.-645A>C
XR_929374.1:n.203A>C
XM_017015320.2:c.118A>C	XP_016870809.1:p.Ile40Leu
XM_017015321.2:c.118A>C	XP_016870810.1:p.Ile40Leu
XM_017015323.2:c.-645A>C	XP_016870812.1:n.-645A>C
XM_024447716.1:c.391A>C	XP_024303484.1:p.Ile131Leu
XM_024447717.1:c.391A>C	XP_024303485.1:p.Ile131Leu
XR_002956828.1:n.406A>C
XR_002956829.1:n.406A>C
XR_002956830.1:n.177A>C
XR_002956831.1:n.138+2046A>C
XR_002956832.1:n.177A>C
NM_012203.2:c.118A>C MANE Select	NP_036335.1:p.Ile40Leu