Canonical Allele Identifier: CA373443509

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429816-C-A
• MyVariant Identifiers: chr9:g.37429813C>A (hg19) ; chr9:g.37429816C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429816C>A , CM000671.2:g.37429816C>A	GRCh38
NC_000009.11:g.37429813C>A , CM000671.1:g.37429813C>A	GRCh37
NC_000009.10:g.37419813C>A	NCBI36
NG_008135.1:g.12107C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.578C>A MANE Select	ENSP00000313432.6:p.Ala193Glu
ENST00000318158.10:c.578C>A	ENSP00000313432.6:p.Ala193Glu
ENST00000377824.8:n.615C>A
ENST00000460882.5:n.605C>A
ENST00000480596.5:n.1279C>A
ENST00000482603.1:n.31C>A
ENST00000491488.5:n.283C>A
ENST00000494290.1:c.149C>A	ENSP00000432021.1:p.Ala50Glu
ENST00000497693.1:n.2111C>A
ENST00000607784.1:c.578C>A	ENSP00000475569.1:p.Ala193Glu
NM_012203.1:c.578C>A	NP_036335.1:p.Ala193Glu
XM_005251631.1:c.257C>A	XP_005251688.1:p.Ala86Glu
XM_011518073.1:c.176C>A	XP_011516375.1:p.Ala59Glu
XR_929374.1:n.1023C>A
XM_017015320.2:c.578C>A	XP_016870809.1:p.Ala193Glu
XM_017015321.2:c.578C>A	XP_016870810.1:p.Ala193Glu
XM_017015323.2:c.176C>A	XP_016870812.1:p.Ala59Glu
XM_024447716.1:c.851C>A	XP_024303484.1:p.Ala284Glu
XM_024447717.1:c.851C>A	XP_024303485.1:p.Ala284Glu
XR_002956828.1:n.866C>A
XR_002956829.1:n.866C>A
XR_002956830.1:n.637C>A
XR_002956831.1:n.312C>A
XR_002956832.1:n.997C>A
NM_012203.2:c.578C>A MANE Select	NP_036335.1:p.Ala193Glu