Canonical Allele Identifier: CA373442485
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs2118865388
gnomAD v3: 9-37426566-G-A
gnomAD v4: 9-37426566-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426566G>A , CM000671.2:g.37426566G>A GRCh38
NC_000009.11:g.37426563G>A , CM000671.1:g.37426563G>A GRCh37
NC_000009.10:g.37416563G>A NCBI36
NG_008135.1:g.8857G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.316G>A MANE Select ENSP00000313432.6:p.Val106Ile
ENST00000318158.10:c.316G>A ENSP00000313432.6:p.Val106Ile
ENST00000377824.8:n.353G>A
ENST00000460882.5:n.343G>A
ENST00000487399.5:n.868G>A
ENST00000491488.5:n.110-1918G>A
ENST00000493368.5:n.373G>A
ENST00000607784.1:c.316G>A ENSP00000475569.1:p.Val106Ile
NM_012203.1:c.316G>A NP_036335.1:p.Val106Ile
XM_005251631.1:c.84-1918G>A XP_005251688.1:n.84-1918G>A
XM_011518073.1:c.-447G>A XP_011516375.1:n.-447G>A
XR_929374.1:n.401G>A
XM_017015320.2:c.316G>A XP_016870809.1:p.Val106Ile
XM_017015321.2:c.316G>A XP_016870810.1:p.Val106Ile
XM_017015323.2:c.-447G>A XP_016870812.1:n.-447G>A
XM_024447716.1:c.589G>A XP_024303484.1:p.Val197Ile
XM_024447717.1:c.589G>A XP_024303485.1:p.Val197Ile
XR_002956828.1:n.604G>A
XR_002956829.1:n.604G>A
XR_002956830.1:n.375G>A
XR_002956831.1:n.139-1918G>A
XR_002956832.1:n.375G>A
NM_012203.2:c.316G>A MANE Select NP_036335.1:p.Val106Ile