Canonical Allele Identifier: CA5058969

Gene: GRHPR

Linked Data

• dbSNP Id: rs772459393
• ExAC: 9:37425962 C / A
• gnomAD v2: 9-37425962-C-A
• gnomAD v4: 9-37425965-C-A
• MyVariant Identifiers: chr9:g.37425962C>A (hg19) ; chr9:g.37425965C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37425965C>A , CM000671.2:g.37425965C>A	GRCh38
NC_000009.11:g.37425962C>A , CM000671.1:g.37425962C>A	GRCh37
NC_000009.10:g.37415962C>A	NCBI36
NG_008135.1:g.8256C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.258C>A MANE Select	ENSP00000313432.6:p.Asp86Glu
ENST00000318158.10:c.258C>A	ENSP00000313432.6:p.Asp86Glu
ENST00000377824.8:n.295C>A
ENST00000460882.5:n.285C>A
ENST00000487399.5:n.267C>A
ENST00000491488.5:n.110-2519C>A
ENST00000493368.5:n.315C>A
ENST00000607784.1:c.258C>A	ENSP00000475569.1:p.Asp86Glu
NM_012203.1:c.258C>A	NP_036335.1:p.Asp86Glu
XM_005251631.1:c.84-2519C>A	XP_005251688.1:n.84-2519C>A
XM_011518073.1:c.-505C>A	XP_011516375.1:n.-505C>A
XR_929374.1:n.343C>A
XM_017015320.2:c.258C>A	XP_016870809.1:p.Asp86Glu
XM_017015321.2:c.258C>A	XP_016870810.1:p.Asp86Glu
XM_017015323.2:c.-505C>A	XP_016870812.1:n.-505C>A
XM_024447716.1:c.531C>A	XP_024303484.1:p.Asp177Glu
XM_024447717.1:c.531C>A	XP_024303485.1:p.Asp177Glu
XR_002956828.1:n.546C>A
XR_002956829.1:n.546C>A
XR_002956830.1:n.317C>A
XR_002956831.1:n.139-2519C>A
XR_002956832.1:n.317C>A
NM_012203.2:c.258C>A MANE Select	NP_036335.1:p.Asp86Glu