Canonical Allele Identifier: CA373442616

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37426636-C-A
• MyVariant Identifiers: chr9:g.37426633C>A (hg19) ; chr9:g.37426636C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426636C>A , CM000671.2:g.37426636C>A	GRCh38
NC_000009.11:g.37426633C>A , CM000671.1:g.37426633C>A	GRCh37
NC_000009.10:g.37416633C>A	NCBI36
NG_008135.1:g.8927C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.386C>A MANE Select	ENSP00000313432.6:p.Ala129Asp
ENST00000318158.10:c.386C>A	ENSP00000313432.6:p.Ala129Asp
ENST00000377824.8:n.423C>A
ENST00000460882.5:n.413C>A
ENST00000487399.5:n.938C>A
ENST00000491488.5:n.110-1848C>A
ENST00000493368.5:n.443C>A
ENST00000607784.1:c.386C>A	ENSP00000475569.1:p.Ala129Asp
NM_012203.1:c.386C>A	NP_036335.1:p.Ala129Asp
XM_005251631.1:c.84-1848C>A	XP_005251688.1:n.84-1848C>A
XM_011518073.1:c.-377C>A	XP_011516375.1:n.-377C>A
XR_929374.1:n.471C>A
XM_017015320.2:c.386C>A	XP_016870809.1:p.Ala129Asp
XM_017015321.2:c.386C>A	XP_016870810.1:p.Ala129Asp
XM_017015323.2:c.-377C>A	XP_016870812.1:n.-377C>A
XM_024447716.1:c.659C>A	XP_024303484.1:p.Ala220Asp
XM_024447717.1:c.659C>A	XP_024303485.1:p.Ala220Asp
XR_002956828.1:n.674C>A
XR_002956829.1:n.674C>A
XR_002956830.1:n.445C>A
XR_002956831.1:n.139-1848C>A
XR_002956832.1:n.445C>A
NM_012203.2:c.386C>A MANE Select	NP_036335.1:p.Ala129Asp