Canonical Allele Identifier: CA275905

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 204243
• ClinVar RCV Id: RCV000186450 ; RCV001238281
• dbSNP Id: rs180177313
• gnomAD v4: 9-37428574-T-A
• MyVariant Identifiers: chr9:g.37428571T>A (hg19) ; chr9:g.37428574T>A (hg38)
• PubMed: PMID:25629080

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428574T>A , CM000671.2:g.37428574T>A	GRCh38
NC_000009.11:g.37428571T>A , CM000671.1:g.37428571T>A	GRCh37
NC_000009.10:g.37418571T>A	NCBI36
NG_008135.1:g.10865T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.493+2T>A MANE Select	ENSP00000313432.6:n.493+2T>A
ENST00000318158.10:c.493+2T>A	ENSP00000313432.6:n.493+2T>A
ENST00000377824.8:n.530+2T>A
ENST00000460882.5:n.520+2T>A
ENST00000480596.5:n.37T>A
ENST00000491488.5:n.198+2T>A
ENST00000493368.5:n.552T>A
ENST00000497693.1:n.869T>A
ENST00000607784.1:c.493+2T>A	ENSP00000475569.1:n.493+2T>A
NM_012203.1:c.493+2T>A	NP_036335.1:n.493+2T>A
XM_005251631.1:c.172+2T>A	XP_005251688.1:n.172+2T>A
XM_011518073.1:c.-268T>A	XP_011516375.1:n.-268T>A
XR_929374.1:n.580T>A
XM_017015320.2:c.493+2T>A	XP_016870809.1:n.493+2T>A
XM_017015321.2:c.493+2T>A	XP_016870810.1:n.493+2T>A
XM_017015323.2:c.-268T>A	XP_016870812.1:n.-268T>A
XM_024447716.1:c.766+2T>A	XP_024303484.1:n.766+2T>A
XM_024447717.1:c.766+2T>A	XP_024303485.1:n.766+2T>A
XR_002956828.1:n.781+2T>A
XR_002956829.1:n.781+2T>A
XR_002956830.1:n.552+2T>A
XR_002956831.1:n.227+2T>A
XR_002956832.1:n.554T>A
NM_012203.2:c.493+2T>A MANE Select	NP_036335.1:n.493+2T>A