Canonical Allele Identifier: CA1846874401

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2900352
• ClinVar RCV Id: RCV003737100
• dbSNP Id: rs1564302407
• gnomAD v4: 9-37432149-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432149C>T , CM000671.2:g.37432149C>T	GRCh38
NC_000009.11:g.37432146C>T , CM000671.1:g.37432146C>T	GRCh37
NC_000009.10:g.37422146C>T	NCBI36
NG_008135.1:g.14440C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.865+11C>T MANE Select	ENSP00000313432.6:n.865+11C>T
ENST00000318158.10:c.865+11C>T	ENSP00000313432.6:n.865+11C>T
ENST00000460882.5:n.892+11C>T
ENST00000480596.5:n.1566+11C>T
ENST00000482603.1:n.318+11C>T
ENST00000491488.5:n.570+11C>T
ENST00000494290.1:c.*51+998C>T	ENSP00000432021.1:n.*51+998C>T
ENST00000497693.1:n.4433+11C>T
ENST00000512404.2:n.63C>T
ENST00000607784.1:c.865+11C>T	ENSP00000475569.1:n.865+11C>T
NM_012203.1:c.865+11C>T	NP_036335.1:n.865+11C>T
XM_005251631.1:c.544+11C>T	XP_005251688.1:n.544+11C>T
XM_011518073.1:c.463+11C>T	XP_011516375.1:n.463+11C>T
XM_017015320.2:c.865+11C>T	XP_016870809.1:n.865+11C>T
XM_017015321.2:c.865+11C>T	XP_016870810.1:n.865+11C>T
XM_017015323.2:c.463+11C>T	XP_016870812.1:n.463+11C>T
XM_024447716.1:c.1138+11C>T	XP_024303484.1:n.1138+11C>T
XM_024447717.1:c.1138+11C>T	XP_024303485.1:n.1138+11C>T
XR_002956828.1:n.1153+11C>T
XR_002956829.1:n.1153+11C>T
XR_002956830.1:n.2285+11C>T
XR_002956831.1:n.1960+11C>T
XR_002956832.1:n.1284+11C>T
NM_012203.2:c.865+11C>T MANE Select	NP_036335.1:n.865+11C>T