Canonical Allele Identifier: CA275878

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 204228
• ClinVar RCV Id: RCV000186435
• dbSNP Id: rs1135283
• MyVariant Identifiers: chr9:g.37436663C>T (hg19) ; chr9:g.37436666C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436666C>T , CM000671.2:g.37436666C>T	GRCh38
NC_000009.11:g.37436663C>T , CM000671.1:g.37436663C>T	GRCh37
NC_000009.10:g.37426663C>T	NCBI36
NG_008135.1:g.18957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.871C>T MANE Select	ENSP00000313432.6:p.Leu291=
ENST00000318158.10:c.871C>T	ENSP00000313432.6:p.Leu291=
ENST00000460882.5:n.898C>T
ENST00000480596.5:n.1572C>T
ENST00000491488.5:n.576C>T
ENST00000494290.1:c.*52-215C>T	ENSP00000432021.1:n.*52-215C>T
ENST00000497693.1:n.4439C>T
NM_012203.1:c.871C>T	NP_036335.1:p.Leu291=
XM_005251631.1:c.550C>T	XP_005251688.1:p.Leu184=
XM_011518073.1:c.469C>T	XP_011516375.1:p.Leu157=
XM_017015320.2:c.946-745C>T	XP_016870809.1:n.946-745C>T
XM_017015321.2:c.866-745C>T	XP_016870810.1:n.866-745C>T
XM_017015323.2:c.544-745C>T	XP_016870812.1:n.544-745C>T
XM_024447716.1:c.1219-745C>T	XP_024303484.1:n.1219-745C>T
XM_024447717.1:c.1139-745C>T	XP_024303485.1:n.1139-745C>T
XR_002956828.1:n.1234-745C>T
XR_002956829.1:n.1154-745C>T
XR_002956830.1:n.2291C>T
XR_002956831.1:n.1966C>T
XR_002956832.1:n.1290C>T
NM_012203.2:c.871C>T MANE Select	NP_036335.1:p.Leu291=