Canonical Allele Identifier: CA373443533

Gene: GRHPR

Linked Data

• dbSNP Id: rs1823273988
• gnomAD v4: 9-37429821-T-C
• MyVariant Identifiers: chr9:g.37429818T>C (hg19) ; chr9:g.37429821T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429821T>C , CM000671.2:g.37429821T>C	GRCh38
NC_000009.11:g.37429818T>C , CM000671.1:g.37429818T>C	GRCh37
NC_000009.10:g.37419818T>C	NCBI36
NG_008135.1:g.12112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.583T>C MANE Select	ENSP00000313432.6:p.Phe195Leu
ENST00000318158.10:c.583T>C	ENSP00000313432.6:p.Phe195Leu
ENST00000377824.8:n.620T>C
ENST00000460882.5:n.610T>C
ENST00000480596.5:n.1284T>C
ENST00000482603.1:n.36T>C
ENST00000491488.5:n.288T>C
ENST00000494290.1:c.154T>C	ENSP00000432021.1:p.Phe52Leu
ENST00000497693.1:n.2116T>C
ENST00000607784.1:c.583T>C	ENSP00000475569.1:p.Phe195Leu
NM_012203.1:c.583T>C	NP_036335.1:p.Phe195Leu
XM_005251631.1:c.262T>C	XP_005251688.1:p.Phe88Leu
XM_011518073.1:c.181T>C	XP_011516375.1:p.Phe61Leu
XR_929374.1:n.1028T>C
XM_017015320.2:c.583T>C	XP_016870809.1:p.Phe195Leu
XM_017015321.2:c.583T>C	XP_016870810.1:p.Phe195Leu
XM_017015323.2:c.181T>C	XP_016870812.1:p.Phe61Leu
XM_024447716.1:c.856T>C	XP_024303484.1:p.Phe286Leu
XM_024447717.1:c.856T>C	XP_024303485.1:p.Phe286Leu
XR_002956828.1:n.871T>C
XR_002956829.1:n.871T>C
XR_002956830.1:n.642T>C
XR_002956831.1:n.317T>C
XR_002956832.1:n.1002T>C
NM_012203.2:c.583T>C MANE Select	NP_036335.1:p.Phe195Leu