Canonical Allele Identifier: CA5058940

Gene: GRHPR

Linked Data

• dbSNP Id: rs779393751
• ExAC: 9:37424913 C / G
• gnomAD v2: 9-37424913-C-G
• gnomAD v4: 9-37424916-C-G
• COSMIC: COSM4590714 ; COSM4590715
• MyVariant Identifiers: chr9:g.37424913C>G (hg19) ; chr9:g.37424916C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424916C>G , CM000671.2:g.37424916C>G	GRCh38
NC_000009.11:g.37424913C>G , CM000671.1:g.37424913C>G	GRCh37
NC_000009.10:g.37414913C>G	NCBI36
NG_008135.1:g.7207C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.155C>G MANE Select	ENSP00000313432.6:p.Ala52Gly
ENST00000318158.10:c.155C>G	ENSP00000313432.6:p.Ala52Gly
ENST00000377824.8:n.192C>G
ENST00000460882.5:n.182C>G
ENST00000487399.5:n.164C>G
ENST00000491488.5:n.109+2083C>G
ENST00000493368.5:n.212C>G
ENST00000607784.1:c.155C>G	ENSP00000475569.1:p.Ala52Gly
NM_012203.1:c.155C>G	NP_036335.1:p.Ala52Gly
XM_005251631.1:c.83+2083C>G	XP_005251688.1:n.83+2083C>G
XM_011518073.1:c.-608C>G	XP_011516375.1:n.-608C>G
XR_929374.1:n.240C>G
XM_017015320.2:c.155C>G	XP_016870809.1:p.Ala52Gly
XM_017015321.2:c.155C>G	XP_016870810.1:p.Ala52Gly
XM_017015323.2:c.-608C>G	XP_016870812.1:n.-608C>G
XM_024447716.1:c.428C>G	XP_024303484.1:p.Ala143Gly
XM_024447717.1:c.428C>G	XP_024303485.1:p.Ala143Gly
XR_002956828.1:n.443C>G
XR_002956829.1:n.443C>G
XR_002956830.1:n.214C>G
XR_002956831.1:n.138+2083C>G
XR_002956832.1:n.214C>G
NM_012203.2:c.155C>G MANE Select	NP_036335.1:p.Ala52Gly