Canonical Allele Identifier: CA373443543

Gene: GRHPR

Linked Data

• dbSNP Id: rs1823274106
• gnomAD v3: 9-37429823-C-G
• gnomAD v4: 9-37429823-C-G
• MyVariant Identifiers: chr9:g.37429820C>G (hg19) ; chr9:g.37429823C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429823C>G , CM000671.2:g.37429823C>G	GRCh38
NC_000009.11:g.37429820C>G , CM000671.1:g.37429820C>G	GRCh37
NC_000009.10:g.37419820C>G	NCBI36
NG_008135.1:g.12114C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.585C>G MANE Select	ENSP00000313432.6:p.Phe195Leu
ENST00000318158.10:c.585C>G	ENSP00000313432.6:p.Phe195Leu
ENST00000377824.8:n.622C>G
ENST00000460882.5:n.612C>G
ENST00000480596.5:n.1286C>G
ENST00000482603.1:n.38C>G
ENST00000491488.5:n.290C>G
ENST00000494290.1:c.156C>G	ENSP00000432021.1:p.Phe52Leu
ENST00000497693.1:n.2118C>G
ENST00000607784.1:c.585C>G	ENSP00000475569.1:p.Phe195Leu
NM_012203.1:c.585C>G	NP_036335.1:p.Phe195Leu
XM_005251631.1:c.264C>G	XP_005251688.1:p.Phe88Leu
XM_011518073.1:c.183C>G	XP_011516375.1:p.Phe61Leu
XR_929374.1:n.1030C>G
XM_017015320.2:c.585C>G	XP_016870809.1:p.Phe195Leu
XM_017015321.2:c.585C>G	XP_016870810.1:p.Phe195Leu
XM_017015323.2:c.183C>G	XP_016870812.1:p.Phe61Leu
XM_024447716.1:c.858C>G	XP_024303484.1:p.Phe286Leu
XM_024447717.1:c.858C>G	XP_024303485.1:p.Phe286Leu
XR_002956828.1:n.873C>G
XR_002956829.1:n.873C>G
XR_002956830.1:n.644C>G
XR_002956831.1:n.319C>G
XR_002956832.1:n.1004C>G
NM_012203.2:c.585C>G MANE Select	NP_036335.1:p.Phe195Leu