Canonical Allele Identifier: CA273930
Gene: GRHPR HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.37426587G>A
GRCh37 chr9:g.37426584G>A
Revel Score:
ENST00000377824 0.898
ENST00000318158 (MANE Select) 0.898
gnomAD v2:
9:37426584 G / A
gnomAD v3:
9:37426587 G / A
gnomAD v4:
chr9-37426587-G-A
Joint Max Group AF 0.00000553 (AMR)
Genomes Max Group AF 0.00002262 (AMR)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV000169087
RCV002517625
ClinVar Variation:
188765
dbSNP:
180177307
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426587G>A , CM000671.2:g.37426587G>A GRCh38
NC_000009.11:g.37426584G>A , CM000671.1:g.37426584G>A GRCh37
NC_000009.10:g.37416584G>A NCBI36
NG_008135.1:g.8878G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.337G>A MANE Select ENSP00000313432.6:p.Glu113Lys
ENST00000318158.10:c.337G>A ENSP00000313432.6:p.Glu113Lys
ENST00000377824.8:n.374G>A
ENST00000460882.5:n.364G>A
ENST00000487399.5:n.889G>A
ENST00000491488.5:n.110-1897G>A
ENST00000493368.5:n.394G>A
ENST00000607784.1:c.337G>A ENSP00000475569.1:p.Glu113Lys
NM_012203.1:c.337G>A NP_036335.1:p.Glu113Lys
XM_005251631.1:c.84-1897G>A XP_005251688.1:n.84-1897G>A
XM_011518073.1:c.-426G>A XP_011516375.1:n.-426G>A
XR_929374.1:n.422G>A
XM_017015320.2:c.337G>A XP_016870809.1:p.Glu113Lys
XM_017015321.2:c.337G>A XP_016870810.1:p.Glu113Lys
XM_017015323.2:c.-426G>A XP_016870812.1:n.-426G>A
XM_024447716.1:c.610G>A XP_024303484.1:p.Glu204Lys
XM_024447717.1:c.610G>A XP_024303485.1:p.Glu204Lys
XR_002956828.1:n.625G>A
XR_002956829.1:n.625G>A
XR_002956830.1:n.396G>A
XR_002956831.1:n.139-1897G>A
XR_002956832.1:n.396G>A
NM_012203.2:c.337G>A MANE Select NP_036335.1:p.Glu113Lys
Search 100 bp 5'
Search 100 bp 3'