Canonical Allele Identifier: CA373444601

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2562905
• ClinVar RCV Id: RCV003296898
• dbSNP Id: rs1564302375
• gnomAD v4: 9-37432132-A-C
• MyVariant Identifiers: chr9:g.37432129A>C (hg19) ; chr9:g.37432132A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432132A>C , CM000671.2:g.37432132A>C	GRCh38
NC_000009.11:g.37432129A>C , CM000671.1:g.37432129A>C	GRCh37
NC_000009.10:g.37422129A>C	NCBI36
NG_008135.1:g.14423A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.859A>C MANE Select	ENSP00000313432.6:p.Asn287His
ENST00000318158.10:c.859A>C	ENSP00000313432.6:p.Asn287His
ENST00000460882.5:n.886A>C
ENST00000480596.5:n.1560A>C
ENST00000482603.1:n.312A>C
ENST00000491488.5:n.564A>C
ENST00000494290.1:c.*51+981A>C	ENSP00000432021.1:n.*51+981A>C
ENST00000497693.1:n.4427A>C
ENST00000512404.2:n.46A>C
ENST00000607784.1:c.859A>C	ENSP00000475569.1:p.Asn287His
NM_012203.1:c.859A>C	NP_036335.1:p.Asn287His
XM_005251631.1:c.538A>C	XP_005251688.1:p.Asn180His
XM_011518073.1:c.457A>C	XP_011516375.1:p.Asn153His
XM_017015320.2:c.859A>C	XP_016870809.1:p.Asn287His
XM_017015321.2:c.859A>C	XP_016870810.1:p.Asn287His
XM_017015323.2:c.457A>C	XP_016870812.1:p.Asn153His
XM_024447716.1:c.1132A>C	XP_024303484.1:p.Asn378His
XM_024447717.1:c.1132A>C	XP_024303485.1:p.Asn378His
XR_002956828.1:n.1147A>C
XR_002956829.1:n.1147A>C
XR_002956830.1:n.2279A>C
XR_002956831.1:n.1954A>C
XR_002956832.1:n.1278A>C
NM_012203.2:c.859A>C MANE Select	NP_036335.1:p.Asn287His