Canonical Allele Identifier: CA5059338

Gene: GRHPR

Linked Data

• dbSNP Id: rs562262441
• ExAC: 9:37436682 C / A
• gnomAD v2: 9-37436682-C-A
• gnomAD v3: 9-37436685-C-A
• gnomAD v4: 9-37436685-C-A
• MyVariant Identifiers: chr9:g.37436682C>A (hg19) ; chr9:g.37436685C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436685C>A , CM000671.2:g.37436685C>A	GRCh38
NC_000009.11:g.37436682C>A , CM000671.1:g.37436682C>A	GRCh37
NC_000009.10:g.37426682C>A	NCBI36
NG_008135.1:g.18976C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.890C>A MANE Select	ENSP00000313432.6:p.Ala297Asp
ENST00000318158.10:c.890C>A	ENSP00000313432.6:p.Ala297Asp
ENST00000460882.5:n.917C>A
ENST00000480596.5:n.1591C>A
ENST00000491488.5:n.595C>A
ENST00000494290.1:c.*52-196C>A	ENSP00000432021.1:n.*52-196C>A
ENST00000497693.1:n.4458C>A
NM_012203.1:c.890C>A	NP_036335.1:p.Ala297Asp
XM_005251631.1:c.569C>A	XP_005251688.1:p.Ala190Asp
XM_011518073.1:c.488C>A	XP_011516375.1:p.Ala163Asp
XM_017015320.2:c.946-726C>A	XP_016870809.1:n.946-726C>A
XM_017015321.2:c.866-726C>A	XP_016870810.1:n.866-726C>A
XM_017015323.2:c.544-726C>A	XP_016870812.1:n.544-726C>A
XM_024447716.1:c.1219-726C>A	XP_024303484.1:n.1219-726C>A
XM_024447717.1:c.1139-726C>A	XP_024303485.1:n.1139-726C>A
XR_002956828.1:n.1234-726C>A
XR_002956829.1:n.1154-726C>A
XR_002956830.1:n.2310C>A
XR_002956831.1:n.1985C>A
XR_002956832.1:n.1309C>A
NM_012203.2:c.890C>A MANE Select	NP_036335.1:p.Ala297Asp