Canonical Allele Identifier: CA465003973

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 797834
• ClinVar RCV Id: RCV000981313
• dbSNP Id: rs1588755413
• MyVariant Identifiers: chr9:g.37428514G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428517G>A , CM000671.2:g.37428517G>A	GRCh38
NC_000009.11:g.37428514G>A , CM000671.1:g.37428514G>A	GRCh37
NC_000009.10:g.37418514G>A	NCBI36
NG_008135.1:g.10808G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.438G>A MANE Select	ENSP00000313432.6:p.Leu146=
ENST00000318158.10:c.438G>A	ENSP00000313432.6:p.Leu146=
ENST00000377824.8:n.475G>A
ENST00000460882.5:n.465G>A
ENST00000491488.5:n.143G>A
ENST00000493368.5:n.495G>A
ENST00000497693.1:n.812G>A
ENST00000607784.1:c.438G>A	ENSP00000475569.1:p.Leu146=
NM_012203.1:c.438G>A	NP_036335.1:p.Leu146=
XM_005251631.1:c.117G>A	XP_005251688.1:p.Leu39=
XM_011518073.1:c.-325G>A	XP_011516375.1:n.-325G>A
XR_929374.1:n.523G>A
XM_017015320.2:c.438G>A	XP_016870809.1:p.Leu146=
XM_017015321.2:c.438G>A	XP_016870810.1:p.Leu146=
XM_017015323.2:c.-325G>A	XP_016870812.1:n.-325G>A
XM_024447716.1:c.711G>A	XP_024303484.1:p.Leu237=
XM_024447717.1:c.711G>A	XP_024303485.1:p.Leu237=
XR_002956828.1:n.726G>A
XR_002956829.1:n.726G>A
XR_002956830.1:n.497G>A
XR_002956831.1:n.172G>A
XR_002956832.1:n.497G>A
NM_012203.2:c.438G>A MANE Select	NP_036335.1:p.Leu146=