Canonical Allele Identifier: CA373445577

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37436778-T-G
• MyVariant Identifiers: chr9:g.37436775T>G (hg19) ; chr9:g.37436778T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436778T>G , CM000671.2:g.37436778T>G	GRCh38
NC_000009.11:g.37436775T>G , CM000671.1:g.37436775T>G	GRCh37
NC_000009.10:g.37426775T>G	NCBI36
NG_008135.1:g.19069T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.983T>G MANE Select	ENSP00000313432.6:p.Leu328Arg
ENST00000318158.10:c.983T>G	ENSP00000313432.6:p.Leu328Arg
ENST00000460882.5:n.1010T>G
ENST00000480596.5:n.1684T>G
ENST00000494290.1:c.*52-103T>G	ENSP00000432021.1:n.*52-103T>G
ENST00000497693.1:n.4551T>G
NM_012203.1:c.983T>G	NP_036335.1:p.Leu328Arg
XM_005251631.1:c.662T>G	XP_005251688.1:p.Leu221Arg
XM_011518073.1:c.581T>G	XP_011516375.1:p.Leu194Arg
XM_017015320.2:c.946-633T>G	XP_016870809.1:n.946-633T>G
XM_017015321.2:c.866-633T>G	XP_016870810.1:n.866-633T>G
XM_017015323.2:c.544-633T>G	XP_016870812.1:n.544-633T>G
XM_024447716.1:c.1219-633T>G	XP_024303484.1:n.1219-633T>G
XM_024447717.1:c.1139-633T>G	XP_024303485.1:n.1139-633T>G
XR_002956828.1:n.1234-633T>G
XR_002956829.1:n.1154-633T>G
XR_002956830.1:n.2403T>G
XR_002956831.1:n.2078T>G
XR_002956832.1:n.1402T>G
NM_012203.2:c.983T>G MANE Select	NP_036335.1:p.Leu328Arg