Canonical Allele Identifier: CA465003984

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1566784
• ClinVar RCV Id: RCV002207589
• dbSNP Id: rs1564299034
• gnomAD v4: 9-37428532-C-T
• MyVariant Identifiers: chr9:g.37428529C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428532C>T , CM000671.2:g.37428532C>T	GRCh38
NC_000009.11:g.37428529C>T , CM000671.1:g.37428529C>T	GRCh37
NC_000009.10:g.37418529C>T	NCBI36
NG_008135.1:g.10823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.453C>T MANE Select	ENSP00000313432.6:p.Leu151=
ENST00000318158.10:c.453C>T	ENSP00000313432.6:p.Leu151=
ENST00000377824.8:n.490C>T
ENST00000460882.5:n.480C>T
ENST00000491488.5:n.158C>T
ENST00000493368.5:n.510C>T
ENST00000497693.1:n.827C>T
ENST00000607784.1:c.453C>T	ENSP00000475569.1:p.Leu151=
NM_012203.1:c.453C>T	NP_036335.1:p.Leu151=
XM_005251631.1:c.132C>T	XP_005251688.1:p.Leu44=
XM_011518073.1:c.-310C>T	XP_011516375.1:n.-310C>T
XR_929374.1:n.538C>T
XM_017015320.2:c.453C>T	XP_016870809.1:p.Leu151=
XM_017015321.2:c.453C>T	XP_016870810.1:p.Leu151=
XM_017015323.2:c.-310C>T	XP_016870812.1:n.-310C>T
XM_024447716.1:c.726C>T	XP_024303484.1:p.Leu242=
XM_024447717.1:c.726C>T	XP_024303485.1:p.Leu242=
XR_002956828.1:n.741C>T
XR_002956829.1:n.741C>T
XR_002956830.1:n.512C>T
XR_002956831.1:n.187C>T
XR_002956832.1:n.512C>T
NM_012203.2:c.453C>T MANE Select	NP_036335.1:p.Leu151=