Canonical Allele Identifier: CA373445455

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37436741C>G (hg19) ; chr9:g.37436744C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436744C>G , CM000671.2:g.37436744C>G	GRCh38
NC_000009.11:g.37436741C>G , CM000671.1:g.37436741C>G	GRCh37
NC_000009.10:g.37426741C>G	NCBI36
NG_008135.1:g.19035C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.949C>G MANE Select	ENSP00000313432.6:p.Leu317Val
ENST00000318158.10:c.949C>G	ENSP00000313432.6:p.Leu317Val
ENST00000460882.5:n.976C>G
ENST00000480596.5:n.1650C>G
ENST00000494290.1:c.*52-137C>G	ENSP00000432021.1:n.*52-137C>G
ENST00000497693.1:n.4517C>G
NM_012203.1:c.949C>G	NP_036335.1:p.Leu317Val
XM_005251631.1:c.628C>G	XP_005251688.1:p.Leu210Val
XM_011518073.1:c.547C>G	XP_011516375.1:p.Leu183Val
XM_017015320.2:c.946-667C>G	XP_016870809.1:n.946-667C>G
XM_017015321.2:c.866-667C>G	XP_016870810.1:n.866-667C>G
XM_017015323.2:c.544-667C>G	XP_016870812.1:n.544-667C>G
XM_024447716.1:c.1219-667C>G	XP_024303484.1:n.1219-667C>G
XM_024447717.1:c.1139-667C>G	XP_024303485.1:n.1139-667C>G
XR_002956828.1:n.1234-667C>G
XR_002956829.1:n.1154-667C>G
XR_002956830.1:n.2369C>G
XR_002956831.1:n.2044C>G
XR_002956832.1:n.1368C>G
NM_012203.2:c.949C>G MANE Select	NP_036335.1:p.Leu317Val