Canonical Allele Identifier: CA126206
Gene: H6PD HGNC NCBI
COSMIC:
COSM3997704 (not active)
MyVariant.info:
GRCh38 chr1:g.9263851G>A
GRCh37 chr1:g.9323910G>A
Revel Score:
ENST00000377403 (MANE Select) 0.179
gnomAD v2:
1:9323910 G / A
gnomAD v3:
1:9263851 G / A
gnomAD v4:
chr1-9263851-G-A
Joint Max Group AF 0.46237406 (EAS)
Genomes Max Group AF 0.45471266 (EAS)
Exomes Max Group AF 0.46170081 (EAS)
ClinVar RCV:
RCV000017511
RCV001636602
ClinVar Variation:
16131
dbSNP:
6688832
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9263851G>A , CM000663.2:g.9263851G>A GRCh38
NC_000001.10:g.9323910G>A , CM000663.1:g.9323910G>A GRCh37
NC_000001.9:g.9246497G>A NCBI36
NG_012218.1:g.34048G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377403.7:c.1358G>A MANE Select ENSP00000366620.2:p.Arg453Gln
ENST00000377403.6:c.1358G>A ENSP00000366620.1:p.Arg453Gln
ENST00000602477.1:c.1391G>A ENSP00000473348.1:p.Arg464Gln
NM_001282587.1:c.1391G>A NP_001269516.1:p.Arg464Gln
NM_004285.3:c.1358G>A NP_004276.2:p.Arg453Gln
XM_005263539.3:c.1391G>A XP_005263596.1:p.Arg464Gln
XM_005263540.3:c.1385G>A XP_005263597.1:p.Arg462Gln
XM_006711052.2:c.1358G>A XP_006711115.1:p.Arg453Gln
XM_011542446.1:c.1358G>A XP_011540748.1:p.Arg453Gln
XM_005263540.5:c.1385G>A XP_005263597.1:p.Arg462Gln
XM_006711052.4:c.1358G>A XP_006711115.1:p.Arg453Gln
XM_017002865.2:c.1358G>A XP_016858354.1:p.Arg453Gln
XM_017002866.2:c.290G>A XP_016858355.1:p.Arg97Gln
NM_001282587.2:c.1391G>A NP_001269516.1:p.Arg464Gln
NM_004285.4:c.1358G>A MANE Select NP_004276.2:p.Arg453Gln
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