Canonical Allele Identifier: CA465004100

Gene: GRHPR

Linked Data

• dbSNP Id: rs1378074373
• gnomAD v2: 9-37429784-A-G
• gnomAD v4: 9-37429787-A-G
• MyVariant Identifiers: chr9:g.37429784A>G (hg19) ; chr9:g.37429787A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429787A>G , CM000671.2:g.37429787A>G	GRCh38
NC_000009.11:g.37429784A>G , CM000671.1:g.37429784A>G	GRCh37
NC_000009.10:g.37419784A>G	NCBI36
NG_008135.1:g.12078A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.549A>G MANE Select	ENSP00000313432.6:p.Thr183=
ENST00000318158.10:c.549A>G	ENSP00000313432.6:p.Thr183=
ENST00000377824.8:n.586A>G
ENST00000460882.5:n.576A>G
ENST00000480596.5:n.1250A>G
ENST00000482603.1:n.2A>G
ENST00000491488.5:n.254A>G
ENST00000494290.1:c.120A>G	ENSP00000432021.1:p.Thr40=
ENST00000497693.1:n.2082A>G
ENST00000607784.1:c.549A>G	ENSP00000475569.1:p.Thr183=
NM_012203.1:c.549A>G	NP_036335.1:p.Thr183=
XM_005251631.1:c.228A>G	XP_005251688.1:p.Thr76=
XM_011518073.1:c.147A>G	XP_011516375.1:p.Thr49=
XR_929374.1:n.994A>G
XM_017015320.2:c.549A>G	XP_016870809.1:p.Thr183=
XM_017015321.2:c.549A>G	XP_016870810.1:p.Thr183=
XM_017015323.2:c.147A>G	XP_016870812.1:p.Thr49=
XM_024447716.1:c.822A>G	XP_024303484.1:p.Thr274=
XM_024447717.1:c.822A>G	XP_024303485.1:p.Thr274=
XR_002956828.1:n.837A>G
XR_002956829.1:n.837A>G
XR_002956830.1:n.608A>G
XR_002956831.1:n.283A>G
XR_002956832.1:n.968A>G
NM_012203.2:c.549A>G MANE Select	NP_036335.1:p.Thr183=