Canonical Allele Identifier: CA275899

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 204239
• ClinVar RCV Id: RCV000186446
• dbSNP Id: rs180177325
• gnomAD v2: 9-37436757-T-G
• gnomAD v3: 9-37436760-T-G
• gnomAD v4: 9-37436760-T-G
• MyVariant Identifiers: chr9:g.37436757T>G (hg19) ; chr9:g.37436760T>G (hg38)
• PubMed: PMID:11030416

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436760T>G , CM000671.2:g.37436760T>G	GRCh38
NC_000009.11:g.37436757T>G , CM000671.1:g.37436757T>G	GRCh37
NC_000009.10:g.37426757T>G	NCBI36
NG_008135.1:g.19051T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.965T>G MANE Select	ENSP00000313432.6:p.Met322Arg
ENST00000318158.10:c.965T>G	ENSP00000313432.6:p.Met322Arg
ENST00000460882.5:n.992T>G
ENST00000480596.5:n.1666T>G
ENST00000494290.1:c.*52-121T>G	ENSP00000432021.1:n.*52-121T>G
ENST00000497693.1:n.4533T>G
NM_012203.1:c.965T>G	NP_036335.1:p.Met322Arg
XM_005251631.1:c.644T>G	XP_005251688.1:p.Met215Arg
XM_011518073.1:c.563T>G	XP_011516375.1:p.Met188Arg
XM_017015320.2:c.946-651T>G	XP_016870809.1:n.946-651T>G
XM_017015321.2:c.866-651T>G	XP_016870810.1:n.866-651T>G
XM_017015323.2:c.544-651T>G	XP_016870812.1:n.544-651T>G
XM_024447716.1:c.1219-651T>G	XP_024303484.1:n.1219-651T>G
XM_024447717.1:c.1139-651T>G	XP_024303485.1:n.1139-651T>G
XR_002956828.1:n.1234-651T>G
XR_002956829.1:n.1154-651T>G
XR_002956830.1:n.2385T>G
XR_002956831.1:n.2060T>G
XR_002956832.1:n.1384T>G
NM_012203.2:c.965T>G MANE Select	NP_036335.1:p.Met322Arg