Canonical Allele Identifier: CA373444591

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37432124T>G (hg19) ; chr9:g.37432127T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432127T>G , CM000671.2:g.37432127T>G	GRCh38
NC_000009.11:g.37432124T>G , CM000671.1:g.37432124T>G	GRCh37
NC_000009.10:g.37422124T>G	NCBI36
NG_008135.1:g.14418T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.854T>G MANE Select	ENSP00000313432.6:p.Leu285Arg
ENST00000318158.10:c.854T>G	ENSP00000313432.6:p.Leu285Arg
ENST00000460882.5:n.881T>G
ENST00000480596.5:n.1555T>G
ENST00000482603.1:n.307T>G
ENST00000491488.5:n.559T>G
ENST00000494290.1:c.*51+976T>G	ENSP00000432021.1:n.*51+976T>G
ENST00000497693.1:n.4422T>G
ENST00000512404.2:n.41T>G
ENST00000607784.1:c.854T>G	ENSP00000475569.1:p.Leu285Arg
NM_012203.1:c.854T>G	NP_036335.1:p.Leu285Arg
XM_005251631.1:c.533T>G	XP_005251688.1:p.Leu178Arg
XM_011518073.1:c.452T>G	XP_011516375.1:p.Leu151Arg
XM_017015320.2:c.854T>G	XP_016870809.1:p.Leu285Arg
XM_017015321.2:c.854T>G	XP_016870810.1:p.Leu285Arg
XM_017015323.2:c.452T>G	XP_016870812.1:p.Leu151Arg
XM_024447716.1:c.1127T>G	XP_024303484.1:p.Leu376Arg
XM_024447717.1:c.1127T>G	XP_024303485.1:p.Leu376Arg
XR_002956828.1:n.1142T>G
XR_002956829.1:n.1142T>G
XR_002956830.1:n.2274T>G
XR_002956831.1:n.1949T>G
XR_002956832.1:n.1273T>G
NM_012203.2:c.854T>G MANE Select	NP_036335.1:p.Leu285Arg