Canonical Allele Identifier: CA373445317

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37436676-T-A
• MyVariant Identifiers: chr9:g.37436673T>A (hg19) ; chr9:g.37436676T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436676T>A , CM000671.2:g.37436676T>A	GRCh38
NC_000009.11:g.37436673T>A , CM000671.1:g.37436673T>A	GRCh37
NC_000009.10:g.37426673T>A	NCBI36
NG_008135.1:g.18967T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.881T>A MANE Select	ENSP00000313432.6:p.Ile294Asn
ENST00000318158.10:c.881T>A	ENSP00000313432.6:p.Ile294Asn
ENST00000460882.5:n.908T>A
ENST00000480596.5:n.1582T>A
ENST00000491488.5:n.586T>A
ENST00000494290.1:c.*52-205T>A	ENSP00000432021.1:n.*52-205T>A
ENST00000497693.1:n.4449T>A
NM_012203.1:c.881T>A	NP_036335.1:p.Ile294Asn
XM_005251631.1:c.560T>A	XP_005251688.1:p.Ile187Asn
XM_011518073.1:c.479T>A	XP_011516375.1:p.Ile160Asn
XM_017015320.2:c.946-735T>A	XP_016870809.1:n.946-735T>A
XM_017015321.2:c.866-735T>A	XP_016870810.1:n.866-735T>A
XM_017015323.2:c.544-735T>A	XP_016870812.1:n.544-735T>A
XM_024447716.1:c.1219-735T>A	XP_024303484.1:n.1219-735T>A
XM_024447717.1:c.1139-735T>A	XP_024303485.1:n.1139-735T>A
XR_002956828.1:n.1234-735T>A
XR_002956829.1:n.1154-735T>A
XR_002956830.1:n.2301T>A
XR_002956831.1:n.1976T>A
XR_002956832.1:n.1300T>A
NM_012203.2:c.881T>A MANE Select	NP_036335.1:p.Ile294Asn