Canonical Allele Identifier: CA465004119

Gene: GRHPR

Linked Data

• dbSNP Id: rs309458
• gnomAD v4: 9-37429817-A-T
• MyVariant Identifiers: chr9:g.37429814A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429817A>T , CM000671.2:g.37429817A>T	GRCh38
NC_000009.11:g.37429814A>T , CM000671.1:g.37429814A>T	GRCh37
NC_000009.10:g.37419814A>T	NCBI36
NG_008135.1:g.12108A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.579A>T MANE Select	ENSP00000313432.6:p.Ala193=
ENST00000318158.10:c.579A>T	ENSP00000313432.6:p.Ala193=
ENST00000377824.8:n.616A>T
ENST00000460882.5:n.606A>T
ENST00000480596.5:n.1280A>T
ENST00000482603.1:n.32A>T
ENST00000491488.5:n.284A>T
ENST00000494290.1:c.150A>T	ENSP00000432021.1:p.Ala50=
ENST00000497693.1:n.2112A>T
ENST00000607784.1:c.579A>T	ENSP00000475569.1:p.Ala193=
NM_012203.1:c.579A>T	NP_036335.1:p.Ala193=
XM_005251631.1:c.258A>T	XP_005251688.1:p.Ala86=
XM_011518073.1:c.177A>T	XP_011516375.1:p.Ala59=
XR_929374.1:n.1024A>T
XM_017015320.2:c.579A>T	XP_016870809.1:p.Ala193=
XM_017015321.2:c.579A>T	XP_016870810.1:p.Ala193=
XM_017015323.2:c.177A>T	XP_016870812.1:p.Ala59=
XM_024447716.1:c.852A>T	XP_024303484.1:p.Ala284=
XM_024447717.1:c.852A>T	XP_024303485.1:p.Ala284=
XR_002956828.1:n.867A>T
XR_002956829.1:n.867A>T
XR_002956830.1:n.638A>T
XR_002956831.1:n.313A>T
XR_002956832.1:n.998A>T
NM_012203.2:c.579A>T MANE Select	NP_036335.1:p.Ala193=