Canonical Allele Identifier: CA465004096

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1648470
• ClinVar RCV Id: RCV002160850
• dbSNP Id: rs1359184501
• MyVariant Identifiers: chr9:g.37429776C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429779C>T , CM000671.2:g.37429779C>T	GRCh38
NC_000009.11:g.37429776C>T , CM000671.1:g.37429776C>T	GRCh37
NC_000009.10:g.37419776C>T	NCBI36
NG_008135.1:g.12070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.541C>T MANE Select	ENSP00000313432.6:p.Leu181=
ENST00000318158.10:c.541C>T	ENSP00000313432.6:p.Leu181=
ENST00000377824.8:n.578C>T
ENST00000460882.5:n.568C>T
ENST00000480596.5:n.1242C>T
ENST00000491488.5:n.246C>T
ENST00000494290.1:c.112C>T	ENSP00000432021.1:p.Leu38=
ENST00000497693.1:n.2074C>T
ENST00000607784.1:c.541C>T	ENSP00000475569.1:p.Leu181=
NM_012203.1:c.541C>T	NP_036335.1:p.Leu181=
XM_005251631.1:c.220C>T	XP_005251688.1:p.Leu74=
XM_011518073.1:c.139C>T	XP_011516375.1:p.Leu47=
XR_929374.1:n.986C>T
XM_017015320.2:c.541C>T	XP_016870809.1:p.Leu181=
XM_017015321.2:c.541C>T	XP_016870810.1:p.Leu181=
XM_017015323.2:c.139C>T	XP_016870812.1:p.Leu47=
XM_024447716.1:c.814C>T	XP_024303484.1:p.Leu272=
XM_024447717.1:c.814C>T	XP_024303485.1:p.Leu272=
XR_002956828.1:n.829C>T
XR_002956829.1:n.829C>T
XR_002956830.1:n.600C>T
XR_002956831.1:n.275C>T
XR_002956832.1:n.960C>T
NM_012203.2:c.541C>T MANE Select	NP_036335.1:p.Leu181=