Canonical Allele Identifier: CA587805462

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1127756
• ClinVar RCV Id: RCV001460267
• dbSNP Id: rs754905846
• gnomAD v2: 9-37436650-C-T
• MyVariant Identifiers: chr9:g.37436650C>T (hg19) ; chr9:g.37436653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436653C>T , CM000671.2:g.37436653C>T	GRCh38
NC_000009.11:g.37436650C>T , CM000671.1:g.37436650C>T	GRCh37
NC_000009.10:g.37426650C>T	NCBI36
NG_008135.1:g.18944C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.866-8C>T MANE Select	ENSP00000313432.6:n.866-8C>T
ENST00000318158.10:c.866-8C>T	ENSP00000313432.6:n.866-8C>T
ENST00000460882.5:n.893-8C>T
ENST00000480596.5:n.1567-8C>T
ENST00000491488.5:n.571-8C>T
ENST00000494290.1:c.*52-228C>T	ENSP00000432021.1:n.*52-228C>T
ENST00000497693.1:n.4434-8C>T
NM_012203.1:c.866-8C>T	NP_036335.1:n.866-8C>T
XM_005251631.1:c.545-8C>T	XP_005251688.1:n.545-8C>T
XM_011518073.1:c.464-8C>T	XP_011516375.1:n.464-8C>T
XM_017015320.2:c.946-758C>T	XP_016870809.1:n.946-758C>T
XM_017015321.2:c.866-758C>T	XP_016870810.1:n.866-758C>T
XM_017015323.2:c.544-758C>T	XP_016870812.1:n.544-758C>T
XM_024447716.1:c.1219-758C>T	XP_024303484.1:n.1219-758C>T
XM_024447717.1:c.1139-758C>T	XP_024303485.1:n.1139-758C>T
XR_002956828.1:n.1234-758C>T
XR_002956829.1:n.1154-758C>T
XR_002956830.1:n.2286-8C>T
XR_002956831.1:n.1961-8C>T
XR_002956832.1:n.1285-8C>T
NM_012203.2:c.866-8C>T MANE Select	NP_036335.1:n.866-8C>T