Canonical Allele Identifier: CA275889
Gene: GRHPR HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.37428557G>A
GRCh37 chr9:g.37428554G>A
Revel Score:
ENST00000377824 0.979
ENST00000318158 (MANE Select) 0.979
gnomAD v2:
9:37428554 G / A
gnomAD v3:
9:37428557 G / A
gnomAD v4:
chr9-37428557-G-A
Joint Max Group AF 0.00000553 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar RCV:
RCV000186441
ClinVar Variation:
204234
dbSNP:
180177312
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428557G>A , CM000671.2:g.37428557G>A GRCh38
NC_000009.11:g.37428554G>A , CM000671.1:g.37428554G>A GRCh37
NC_000009.10:g.37418554G>A NCBI36
NG_008135.1:g.10848G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.478G>A MANE Select ENSP00000313432.6:p.Gly160Arg
ENST00000318158.10:c.478G>A ENSP00000313432.6:p.Gly160Arg
ENST00000377824.8:n.515G>A
ENST00000460882.5:n.505G>A
ENST00000480596.5:n.20G>A
ENST00000491488.5:n.183G>A
ENST00000493368.5:n.535G>A
ENST00000497693.1:n.852G>A
ENST00000607784.1:c.478G>A ENSP00000475569.1:p.Gly160Arg
NM_012203.1:c.478G>A NP_036335.1:p.Gly160Arg
XM_005251631.1:c.157G>A XP_005251688.1:p.Gly53Arg
XM_011518073.1:c.-285G>A XP_011516375.1:n.-285G>A
XR_929374.1:n.563G>A
XM_017015320.2:c.478G>A XP_016870809.1:p.Gly160Arg
XM_017015321.2:c.478G>A XP_016870810.1:p.Gly160Arg
XM_017015323.2:c.-285G>A XP_016870812.1:n.-285G>A
XM_024447716.1:c.751G>A XP_024303484.1:p.Gly251Arg
XM_024447717.1:c.751G>A XP_024303485.1:p.Gly251Arg
XR_002956828.1:n.766G>A
XR_002956829.1:n.766G>A
XR_002956830.1:n.537G>A
XR_002956831.1:n.212G>A
XR_002956832.1:n.537G>A
NM_012203.2:c.478G>A MANE Select NP_036335.1:p.Gly160Arg
Search 100 bp 5'
Search 100 bp 3'