Canonical Allele Identifier: CA5059336

Gene: GRHPR

Linked Data

• dbSNP Id: rs139554205
• ExAC: 9:37436672 A / G
• gnomAD v2: 9-37436672-A-G
• gnomAD v3: 9-37436675-A-G
• gnomAD v4: 9-37436675-A-G
• MyVariant Identifiers: chr9:g.37436672A>G (hg19) ; chr9:g.37436675A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436675A>G , CM000671.2:g.37436675A>G	GRCh38
NC_000009.11:g.37436672A>G , CM000671.1:g.37436672A>G	GRCh37
NC_000009.10:g.37426672A>G	NCBI36
NG_008135.1:g.18966A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.880A>G MANE Select	ENSP00000313432.6:p.Ile294Val
ENST00000318158.10:c.880A>G	ENSP00000313432.6:p.Ile294Val
ENST00000460882.5:n.907A>G
ENST00000480596.5:n.1581A>G
ENST00000491488.5:n.585A>G
ENST00000494290.1:c.*52-206A>G	ENSP00000432021.1:n.*52-206A>G
ENST00000497693.1:n.4448A>G
NM_012203.1:c.880A>G	NP_036335.1:p.Ile294Val
XM_005251631.1:c.559A>G	XP_005251688.1:p.Ile187Val
XM_011518073.1:c.478A>G	XP_011516375.1:p.Ile160Val
XM_017015320.2:c.946-736A>G	XP_016870809.1:n.946-736A>G
XM_017015321.2:c.866-736A>G	XP_016870810.1:n.866-736A>G
XM_017015323.2:c.544-736A>G	XP_016870812.1:n.544-736A>G
XM_024447716.1:c.1219-736A>G	XP_024303484.1:n.1219-736A>G
XM_024447717.1:c.1139-736A>G	XP_024303485.1:n.1139-736A>G
XR_002956828.1:n.1234-736A>G
XR_002956829.1:n.1154-736A>G
XR_002956830.1:n.2300A>G
XR_002956831.1:n.1975A>G
XR_002956832.1:n.1299A>G
NM_012203.2:c.880A>G MANE Select	NP_036335.1:p.Ile294Val