Canonical Allele Identifier: CA465004394

Gene: GRHPR

Linked Data

• dbSNP Id: rs1158810041
• gnomAD v2: 9-37432119-G-T
• MyVariant Identifiers: chr9:g.37432119G>T (hg19) ; chr9:g.37432122G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432122G>T , CM000671.2:g.37432122G>T	GRCh38
NC_000009.11:g.37432119G>T , CM000671.1:g.37432119G>T	GRCh37
NC_000009.10:g.37422119G>T	NCBI36
NG_008135.1:g.14413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.849G>T MANE Select	ENSP00000313432.6:p.Leu283=
ENST00000318158.10:c.849G>T	ENSP00000313432.6:p.Leu283=
ENST00000460882.5:n.876G>T
ENST00000480596.5:n.1550G>T
ENST00000482603.1:n.302G>T
ENST00000491488.5:n.554G>T
ENST00000494290.1:c.*51+971G>T	ENSP00000432021.1:n.*51+971G>T
ENST00000497693.1:n.4417G>T
ENST00000512404.2:n.36G>T
ENST00000607784.1:c.849G>T	ENSP00000475569.1:p.Leu283=
NM_012203.1:c.849G>T	NP_036335.1:p.Leu283=
XM_005251631.1:c.528G>T	XP_005251688.1:p.Leu176=
XM_011518073.1:c.447G>T	XP_011516375.1:p.Leu149=
XM_017015320.2:c.849G>T	XP_016870809.1:p.Leu283=
XM_017015321.2:c.849G>T	XP_016870810.1:p.Leu283=
XM_017015323.2:c.447G>T	XP_016870812.1:p.Leu149=
XM_024447716.1:c.1122G>T	XP_024303484.1:p.Leu374=
XM_024447717.1:c.1122G>T	XP_024303485.1:p.Leu374=
XR_002956828.1:n.1137G>T
XR_002956829.1:n.1137G>T
XR_002956830.1:n.2269G>T
XR_002956831.1:n.1944G>T
XR_002956832.1:n.1268G>T
NM_012203.2:c.849G>T MANE Select	NP_036335.1:p.Leu283=