Canonical Allele Identifier: CA373445494

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2664424
• ClinVar RCV Id: RCV003447384
• MyVariant Identifiers: chr9:g.37436753C>G (hg19) ; chr9:g.37436756C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436756C>G , CM000671.2:g.37436756C>G	GRCh38
NC_000009.11:g.37436753C>G , CM000671.1:g.37436753C>G	GRCh37
NC_000009.10:g.37426753C>G	NCBI36
NG_008135.1:g.19047C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.961C>G MANE Select	ENSP00000313432.6:p.Pro321Ala
ENST00000318158.10:c.961C>G	ENSP00000313432.6:p.Pro321Ala
ENST00000460882.5:n.988C>G
ENST00000480596.5:n.1662C>G
ENST00000494290.1:c.*52-125C>G	ENSP00000432021.1:n.*52-125C>G
ENST00000497693.1:n.4529C>G
NM_012203.1:c.961C>G	NP_036335.1:p.Pro321Ala
XM_005251631.1:c.640C>G	XP_005251688.1:p.Pro214Ala
XM_011518073.1:c.559C>G	XP_011516375.1:p.Pro187Ala
XM_017015320.2:c.946-655C>G	XP_016870809.1:n.946-655C>G
XM_017015321.2:c.866-655C>G	XP_016870810.1:n.866-655C>G
XM_017015323.2:c.544-655C>G	XP_016870812.1:n.544-655C>G
XM_024447716.1:c.1219-655C>G	XP_024303484.1:n.1219-655C>G
XM_024447717.1:c.1139-655C>G	XP_024303485.1:n.1139-655C>G
XR_002956828.1:n.1234-655C>G
XR_002956829.1:n.1154-655C>G
XR_002956830.1:n.2381C>G
XR_002956831.1:n.2056C>G
XR_002956832.1:n.1380C>G
NM_012203.2:c.961C>G MANE Select	NP_036335.1:p.Pro321Ala