Canonical Allele Identifier: CA373445555

Gene: GRHPR

Linked Data

• dbSNP Id: rs1251237502
• gnomAD v2: 9-37436769-T-G
• gnomAD v4: 9-37436772-T-G
• MyVariant Identifiers: chr9:g.37436769T>G (hg19) ; chr9:g.37436772T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436772T>G , CM000671.2:g.37436772T>G	GRCh38
NC_000009.11:g.37436769T>G , CM000671.1:g.37436769T>G	GRCh37
NC_000009.10:g.37426769T>G	NCBI36
NG_008135.1:g.19063T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.977T>G MANE Select	ENSP00000313432.6:p.Leu326Arg
ENST00000318158.10:c.977T>G	ENSP00000313432.6:p.Leu326Arg
ENST00000460882.5:n.1004T>G
ENST00000480596.5:n.1678T>G
ENST00000494290.1:c.*52-109T>G	ENSP00000432021.1:n.*52-109T>G
ENST00000497693.1:n.4545T>G
NM_012203.1:c.977T>G	NP_036335.1:p.Leu326Arg
XM_005251631.1:c.656T>G	XP_005251688.1:p.Leu219Arg
XM_011518073.1:c.575T>G	XP_011516375.1:p.Leu192Arg
XM_017015320.2:c.946-639T>G	XP_016870809.1:n.946-639T>G
XM_017015321.2:c.866-639T>G	XP_016870810.1:n.866-639T>G
XM_017015323.2:c.544-639T>G	XP_016870812.1:n.544-639T>G
XM_024447716.1:c.1219-639T>G	XP_024303484.1:n.1219-639T>G
XM_024447717.1:c.1139-639T>G	XP_024303485.1:n.1139-639T>G
XR_002956828.1:n.1234-639T>G
XR_002956829.1:n.1154-639T>G
XR_002956830.1:n.2397T>G
XR_002956831.1:n.2072T>G
XR_002956832.1:n.1396T>G
NM_012203.2:c.977T>G MANE Select	NP_036335.1:p.Leu326Arg