Canonical Allele Identifier: CA373443276

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429749-C-A
• MyVariant Identifiers: chr9:g.37429746C>A (hg19) ; chr9:g.37429749C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429749C>A , CM000671.2:g.37429749C>A	GRCh38
NC_000009.11:g.37429746C>A , CM000671.1:g.37429746C>A	GRCh37
NC_000009.10:g.37419746C>A	NCBI36
NG_008135.1:g.12040C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.511C>A MANE Select	ENSP00000313432.6:p.Arg171Ser
ENST00000318158.10:c.511C>A	ENSP00000313432.6:p.Arg171Ser
ENST00000377824.8:n.548C>A
ENST00000460882.5:n.538C>A
ENST00000480596.5:n.1212C>A
ENST00000491488.5:n.216C>A
ENST00000494290.1:c.82C>A	ENSP00000432021.1:p.Arg28Ser
ENST00000497693.1:n.2044C>A
ENST00000607784.1:c.511C>A	ENSP00000475569.1:p.Arg171Ser
NM_012203.1:c.511C>A	NP_036335.1:p.Arg171Ser
XM_005251631.1:c.190C>A	XP_005251688.1:p.Arg64Ser
XM_011518073.1:c.109C>A	XP_011516375.1:p.Arg37Ser
XR_929374.1:n.956C>A
XM_017015320.2:c.511C>A	XP_016870809.1:p.Arg171Ser
XM_017015321.2:c.511C>A	XP_016870810.1:p.Arg171Ser
XM_017015323.2:c.109C>A	XP_016870812.1:p.Arg37Ser
XM_024447716.1:c.784C>A	XP_024303484.1:p.Arg262Ser
XM_024447717.1:c.784C>A	XP_024303485.1:p.Arg262Ser
XR_002956828.1:n.799C>A
XR_002956829.1:n.799C>A
XR_002956830.1:n.570C>A
XR_002956831.1:n.245C>A
XR_002956832.1:n.930C>A
NM_012203.2:c.511C>A MANE Select	NP_036335.1:p.Arg171Ser