Canonical Allele Identifier: CA5059341

Gene: GRHPR

Linked Data

• dbSNP Id: rs776250933
• ExAC: 9:37436701 C / T
• gnomAD v2: 9-37436701-C-T
• gnomAD v4: 9-37436704-C-T
• MyVariant Identifiers: chr9:g.37436701C>T (hg19) ; chr9:g.37436704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436704C>T , CM000671.2:g.37436704C>T	GRCh38
NC_000009.11:g.37436701C>T , CM000671.1:g.37436701C>T	GRCh37
NC_000009.10:g.37426701C>T	NCBI36
NG_008135.1:g.18995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.909C>T MANE Select	ENSP00000313432.6:p.Asn303=
ENST00000318158.10:c.909C>T	ENSP00000313432.6:p.Asn303=
ENST00000460882.5:n.936C>T
ENST00000480596.5:n.1610C>T
ENST00000494290.1:c.*52-177C>T	ENSP00000432021.1:n.*52-177C>T
ENST00000497693.1:n.4477C>T
NM_012203.1:c.909C>T	NP_036335.1:p.Asn303=
XM_005251631.1:c.588C>T	XP_005251688.1:p.Asn196=
XM_011518073.1:c.507C>T	XP_011516375.1:p.Asn169=
XM_017015320.2:c.946-707C>T	XP_016870809.1:n.946-707C>T
XM_017015321.2:c.866-707C>T	XP_016870810.1:n.866-707C>T
XM_017015323.2:c.544-707C>T	XP_016870812.1:n.544-707C>T
XM_024447716.1:c.1219-707C>T	XP_024303484.1:n.1219-707C>T
XM_024447717.1:c.1139-707C>T	XP_024303485.1:n.1139-707C>T
XR_002956828.1:n.1234-707C>T
XR_002956829.1:n.1154-707C>T
XR_002956830.1:n.2329C>T
XR_002956831.1:n.2004C>T
XR_002956832.1:n.1328C>T
NM_012203.2:c.909C>T MANE Select	NP_036335.1:p.Asn303=