Canonical Allele Identifier: CA275880

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 204229
• ClinVar RCV Id: RCV000186436 ; RCV000966377
• dbSNP Id: rs76299266
• ExAC: 9:37436755 G / A
• gnomAD v2: 9-37436755-G-A
• gnomAD v3: 9-37436758-G-A
• gnomAD v4: 9-37436758-G-A
• MyVariant Identifiers: chr9:g.37436755G>A (hg19) ; chr9:g.37436758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436758G>A , CM000671.2:g.37436758G>A	GRCh38
NC_000009.11:g.37436755G>A , CM000671.1:g.37436755G>A	GRCh37
NC_000009.10:g.37426755G>A	NCBI36
NG_008135.1:g.19049G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.963G>A MANE Select	ENSP00000313432.6:p.Pro321=
ENST00000318158.10:c.963G>A	ENSP00000313432.6:p.Pro321=
ENST00000460882.5:n.990G>A
ENST00000480596.5:n.1664G>A
ENST00000494290.1:c.*52-123G>A	ENSP00000432021.1:n.*52-123G>A
ENST00000497693.1:n.4531G>A
NM_012203.1:c.963G>A	NP_036335.1:p.Pro321=
XM_005251631.1:c.642G>A	XP_005251688.1:p.Pro214=
XM_011518073.1:c.561G>A	XP_011516375.1:p.Pro187=
XM_017015320.2:c.946-653G>A	XP_016870809.1:n.946-653G>A
XM_017015321.2:c.866-653G>A	XP_016870810.1:n.866-653G>A
XM_017015323.2:c.544-653G>A	XP_016870812.1:n.544-653G>A
XM_024447716.1:c.1219-653G>A	XP_024303484.1:n.1219-653G>A
XM_024447717.1:c.1139-653G>A	XP_024303485.1:n.1139-653G>A
XR_002956828.1:n.1234-653G>A
XR_002956829.1:n.1154-653G>A
XR_002956830.1:n.2383G>A
XR_002956831.1:n.2058G>A
XR_002956832.1:n.1382G>A
NM_012203.2:c.963G>A MANE Select	NP_036335.1:p.Pro321=