Canonical Allele Identifier: CA373445292

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37436661T>C (hg19) ; chr9:g.37436664T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436664T>C , CM000671.2:g.37436664T>C	GRCh38
NC_000009.11:g.37436661T>C , CM000671.1:g.37436661T>C	GRCh37
NC_000009.10:g.37426661T>C	NCBI36
NG_008135.1:g.18955T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.869T>C MANE Select	ENSP00000313432.6:p.Ile290Thr
ENST00000318158.10:c.869T>C	ENSP00000313432.6:p.Ile290Thr
ENST00000460882.5:n.896T>C
ENST00000480596.5:n.1570T>C
ENST00000491488.5:n.574T>C
ENST00000494290.1:c.*52-217T>C	ENSP00000432021.1:n.*52-217T>C
ENST00000497693.1:n.4437T>C
NM_012203.1:c.869T>C	NP_036335.1:p.Ile290Thr
XM_005251631.1:c.548T>C	XP_005251688.1:p.Ile183Thr
XM_011518073.1:c.467T>C	XP_011516375.1:p.Ile156Thr
XM_017015320.2:c.946-747T>C	XP_016870809.1:n.946-747T>C
XM_017015321.2:c.866-747T>C	XP_016870810.1:n.866-747T>C
XM_017015323.2:c.544-747T>C	XP_016870812.1:n.544-747T>C
XM_024447716.1:c.1219-747T>C	XP_024303484.1:n.1219-747T>C
XM_024447717.1:c.1139-747T>C	XP_024303485.1:n.1139-747T>C
XR_002956828.1:n.1234-747T>C
XR_002956829.1:n.1154-747T>C
XR_002956830.1:n.2289T>C
XR_002956831.1:n.1964T>C
XR_002956832.1:n.1288T>C
NM_012203.2:c.869T>C MANE Select	NP_036335.1:p.Ile290Thr