Canonical Allele Identifier: CA575372
Gene: H6PD HGNC NCBI
COSMIC:
COSM3747117 (not active)
MyVariant.info:
GRCh38 chr1:g.9264154C>T
GRCh37 chr1:g.9324213C>T
Revel Score:
ENST00000377403 (MANE Select) 0.394
gnomAD v2:
1:9324213 C / T
gnomAD v3:
1:9264154 C / T
gnomAD v4:
chr1-9264154-C-T
Joint Max Group AF 0.18224107 (SAS)
Genomes Max Group AF 0.17310162 (SAS)
Exomes Max Group AF 0.18225853 (SAS)
ClinVar RCV:
RCV002132101
ClinVar Variation:
1600034
dbSNP:
17368528
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9264154C>T , CM000663.2:g.9264154C>T GRCh38
NC_000001.10:g.9324213C>T , CM000663.1:g.9324213C>T GRCh37
NC_000001.9:g.9246800C>T NCBI36
NG_012218.1:g.34351C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377403.7:c.1661C>T MANE Select ENSP00000366620.2:p.Pro554Leu
ENST00000377403.6:c.1661C>T ENSP00000366620.1:p.Pro554Leu
ENST00000602477.1:c.1694C>T ENSP00000473348.1:p.Pro565Leu
NM_001282587.1:c.1694C>T NP_001269516.1:p.Pro565Leu
NM_004285.3:c.1661C>T NP_004276.2:p.Pro554Leu
XM_005263539.3:c.1694C>T XP_005263596.1:p.Pro565Leu
XM_005263540.3:c.1688C>T XP_005263597.1:p.Pro563Leu
XM_006711052.2:c.1661C>T XP_006711115.1:p.Pro554Leu
XM_011542446.1:c.1661C>T XP_011540748.1:p.Pro554Leu
XM_005263540.5:c.1688C>T XP_005263597.1:p.Pro563Leu
XM_006711052.4:c.1661C>T XP_006711115.1:p.Pro554Leu
XM_017002865.2:c.1661C>T XP_016858354.1:p.Pro554Leu
XM_017002866.2:c.593C>T XP_016858355.1:p.Pro198Leu
NM_001282587.2:c.1694C>T NP_001269516.1:p.Pro565Leu
NM_004285.4:c.1661C>T MANE Select NP_004276.2:p.Pro554Leu
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