Canonical Allele Identifier: CA373445288

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37436660A>C (hg19) ; chr9:g.37436663A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436663A>C , CM000671.2:g.37436663A>C	GRCh38
NC_000009.11:g.37436660A>C , CM000671.1:g.37436660A>C	GRCh37
NC_000009.10:g.37426660A>C	NCBI36
NG_008135.1:g.18954A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.868A>C MANE Select	ENSP00000313432.6:p.Ile290Leu
ENST00000318158.10:c.868A>C	ENSP00000313432.6:p.Ile290Leu
ENST00000460882.5:n.895A>C
ENST00000480596.5:n.1569A>C
ENST00000491488.5:n.573A>C
ENST00000494290.1:c.*52-218A>C	ENSP00000432021.1:n.*52-218A>C
ENST00000497693.1:n.4436A>C
NM_012203.1:c.868A>C	NP_036335.1:p.Ile290Leu
XM_005251631.1:c.547A>C	XP_005251688.1:p.Ile183Leu
XM_011518073.1:c.466A>C	XP_011516375.1:p.Ile156Leu
XM_017015320.2:c.946-748A>C	XP_016870809.1:n.946-748A>C
XM_017015321.2:c.866-748A>C	XP_016870810.1:n.866-748A>C
XM_017015323.2:c.544-748A>C	XP_016870812.1:n.544-748A>C
XM_024447716.1:c.1219-748A>C	XP_024303484.1:n.1219-748A>C
XM_024447717.1:c.1139-748A>C	XP_024303485.1:n.1139-748A>C
XR_002956828.1:n.1234-748A>C
XR_002956829.1:n.1154-748A>C
XR_002956830.1:n.2288A>C
XR_002956831.1:n.1963A>C
XR_002956832.1:n.1287A>C
NM_012203.2:c.868A>C MANE Select	NP_036335.1:p.Ile290Leu