Canonical Allele Identifier: CA2506683533

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2916041
• ClinVar RCV Id: RCV003740262
• gnomAD v4: 9-37428587-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428587G>T , CM000671.2:g.37428587G>T	GRCh38
NC_000009.11:g.37428584G>T , CM000671.1:g.37428584G>T	GRCh37
NC_000009.10:g.37418584G>T	NCBI36
NG_008135.1:g.10878G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.493+15G>T MANE Select	ENSP00000313432.6:n.493+15G>T
ENST00000318158.10:c.493+15G>T	ENSP00000313432.6:n.493+15G>T
ENST00000377824.8:n.530+15G>T
ENST00000460882.5:n.520+15G>T
ENST00000480596.5:n.50G>T
ENST00000491488.5:n.198+15G>T
ENST00000493368.5:n.565G>T
ENST00000497693.1:n.882G>T
ENST00000607784.1:c.493+15G>T	ENSP00000475569.1:n.493+15G>T
NM_012203.1:c.493+15G>T	NP_036335.1:n.493+15G>T
XM_005251631.1:c.172+15G>T	XP_005251688.1:n.172+15G>T
XM_011518073.1:c.-255G>T	XP_011516375.1:n.-255G>T
XR_929374.1:n.593G>T
XM_017015320.2:c.493+15G>T	XP_016870809.1:n.493+15G>T
XM_017015321.2:c.493+15G>T	XP_016870810.1:n.493+15G>T
XM_017015323.2:c.-255G>T	XP_016870812.1:n.-255G>T
XM_024447716.1:c.766+15G>T	XP_024303484.1:n.766+15G>T
XM_024447717.1:c.766+15G>T	XP_024303485.1:n.766+15G>T
XR_002956828.1:n.781+15G>T
XR_002956829.1:n.781+15G>T
XR_002956830.1:n.552+15G>T
XR_002956831.1:n.227+15G>T
XR_002956832.1:n.567G>T
NM_012203.2:c.493+15G>T MANE Select	NP_036335.1:n.493+15G>T