Canonical Allele Identifier: CA275893

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 204236
• ClinVar RCV Id: RCV000186443 ; RCV004526633
• dbSNP Id: rs796052079
• gnomAD v3: 9-37432016-T-A
• gnomAD v4: 9-37432016-T-A
• MyVariant Identifiers: chr9:g.37432013T>A (hg19) ; chr9:g.37432016T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432016T>A , CM000671.2:g.37432016T>A	GRCh38
NC_000009.11:g.37432013T>A , CM000671.1:g.37432013T>A	GRCh37
NC_000009.10:g.37422013T>A	NCBI36
NG_008135.1:g.14307T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.743T>A MANE Select	ENSP00000313432.6:p.Val248Asp
ENST00000318158.10:c.743T>A	ENSP00000313432.6:p.Val248Asp
ENST00000460882.5:n.770T>A
ENST00000480596.5:n.1444T>A
ENST00000482603.1:n.196T>A
ENST00000491488.5:n.448T>A
ENST00000494290.1:c.*51+865T>A	ENSP00000432021.1:n.*51+865T>A
ENST00000497693.1:n.4311T>A
ENST00000607784.1:c.743T>A	ENSP00000475569.1:p.Val248Asp
NM_012203.1:c.743T>A	NP_036335.1:p.Val248Asp
XM_005251631.1:c.422T>A	XP_005251688.1:p.Val141Asp
XM_011518073.1:c.341T>A	XP_011516375.1:p.Val114Asp
XM_017015320.2:c.743T>A	XP_016870809.1:p.Val248Asp
XM_017015321.2:c.743T>A	XP_016870810.1:p.Val248Asp
XM_017015323.2:c.341T>A	XP_016870812.1:p.Val114Asp
XM_024447716.1:c.1016T>A	XP_024303484.1:p.Val339Asp
XM_024447717.1:c.1016T>A	XP_024303485.1:p.Val339Asp
XR_002956828.1:n.1031T>A
XR_002956829.1:n.1031T>A
XR_002956830.1:n.2163T>A
XR_002956831.1:n.1838T>A
XR_002956832.1:n.1162T>A
NM_012203.2:c.743T>A MANE Select	NP_036335.1:p.Val248Asp