Canonical Allele Identifier: CA16041326

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 371535
• ClinVar RCV Id: RCV000412226 ; RCV002523876
• dbSNP Id: rs180177307
• MyVariant Identifiers: chr9:g.37426584G>T (hg19) ; chr9:g.37426587G>T (hg38)
• PubMed: PMID:25644115

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426587G>T , CM000671.2:g.37426587G>T	GRCh38
NC_000009.11:g.37426584G>T , CM000671.1:g.37426584G>T	GRCh37
NC_000009.10:g.37416584G>T	NCBI36
NG_008135.1:g.8878G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.337G>T MANE Select	ENSP00000313432.6:p.Glu113Ter
ENST00000318158.10:c.337G>T	ENSP00000313432.6:p.Glu113Ter
ENST00000377824.8:n.374G>T
ENST00000460882.5:n.364G>T
ENST00000487399.5:n.889G>T
ENST00000491488.5:n.110-1897G>T
ENST00000493368.5:n.394G>T
ENST00000607784.1:c.337G>T	ENSP00000475569.1:p.Glu113Ter
NM_012203.1:c.337G>T	NP_036335.1:p.Glu113Ter
XM_005251631.1:c.84-1897G>T	XP_005251688.1:n.84-1897G>T
XM_011518073.1:c.-426G>T	XP_011516375.1:n.-426G>T
XR_929374.1:n.422G>T
XM_017015320.2:c.337G>T	XP_016870809.1:p.Glu113Ter
XM_017015321.2:c.337G>T	XP_016870810.1:p.Glu113Ter
XM_017015323.2:c.-426G>T	XP_016870812.1:n.-426G>T
XM_024447716.1:c.610G>T	XP_024303484.1:p.Glu204Ter
XM_024447717.1:c.610G>T	XP_024303485.1:p.Glu204Ter
XR_002956828.1:n.625G>T
XR_002956829.1:n.625G>T
XR_002956830.1:n.396G>T
XR_002956831.1:n.139-1897G>T
XR_002956832.1:n.396G>T
NM_012203.2:c.337G>T MANE Select	NP_036335.1:p.Glu113Ter