Canonical Allele Identifier: CA373445399

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37436714T>G (hg19) ; chr9:g.37436717T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436717T>G , CM000671.2:g.37436717T>G	GRCh38
NC_000009.11:g.37436714T>G , CM000671.1:g.37436714T>G	GRCh37
NC_000009.10:g.37426714T>G	NCBI36
NG_008135.1:g.19008T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.922T>G MANE Select	ENSP00000313432.6:p.Leu308Val
ENST00000318158.10:c.922T>G	ENSP00000313432.6:p.Leu308Val
ENST00000460882.5:n.949T>G
ENST00000480596.5:n.1623T>G
ENST00000494290.1:c.*52-164T>G	ENSP00000432021.1:n.*52-164T>G
ENST00000497693.1:n.4490T>G
NM_012203.1:c.922T>G	NP_036335.1:p.Leu308Val
XM_005251631.1:c.601T>G	XP_005251688.1:p.Leu201Val
XM_011518073.1:c.520T>G	XP_011516375.1:p.Leu174Val
XM_017015320.2:c.946-694T>G	XP_016870809.1:n.946-694T>G
XM_017015321.2:c.866-694T>G	XP_016870810.1:n.866-694T>G
XM_017015323.2:c.544-694T>G	XP_016870812.1:n.544-694T>G
XM_024447716.1:c.1219-694T>G	XP_024303484.1:n.1219-694T>G
XM_024447717.1:c.1139-694T>G	XP_024303485.1:n.1139-694T>G
XR_002956828.1:n.1234-694T>G
XR_002956829.1:n.1154-694T>G
XR_002956830.1:n.2342T>G
XR_002956831.1:n.2017T>G
XR_002956832.1:n.1341T>G
NM_012203.2:c.922T>G MANE Select	NP_036335.1:p.Leu308Val