Canonical Allele Identifier: CA120961
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 10371
ClinVar RCV Id: RCV000011091 RCV000066233 RCV000790772 RCV002496322
dbSNP Id: rs137852317
MyVariant Identifiers: chrX:g.153760626C>T (hg19) chrX:g.154532411C>T (hg38)
PubMed: PMID:2503817
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532411C>T , CM000685.2:g.154532411C>T GRCh38
NC_000023.10:g.153760626C>T , CM000685.1:g.153760626C>T GRCh37
NC_000023.9:g.153413820C>T NCBI36
NG_009015.2:g.20162G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.1339G>A ENSP00000377194.2:p.Gly447Arg
ENST00000439227.6:c.1342G>A ENSP00000395599.2:p.Gly448Arg
ENST00000696420.1:c.1339G>A ENSP00000512615.1:p.Gly447Arg
ENST00000696421.1:c.1339G>A ENSP00000512616.1:p.Gly447Arg
ENST00000696422.1:c.1202G>A
ENST00000696423.1:c.1205G>A
ENST00000696424.1:c.1191G>A ENSP00000512619.1:n.1191G>A
ENST00000696425.1:c.*252G>A ENSP00000512620.1:n.*252G>A
ENST00000696426.1:c.*799G>A ENSP00000512621.1:n.*799G>A
ENST00000696427.1:c.*299G>A ENSP00000512622.1:n.*299G>A
ENST00000696428.1:c.*1181G>A ENSP00000512623.1:n.*1181G>A
ENST00000696429.1:c.1339G>A ENSP00000512624.1:p.Gly447Arg
ENST00000696430.1:c.1339G>A ENSP00000512625.1:p.Gly447Arg
ENST00000393562.10:c.1339G>A MANE Select ENSP00000377192.3:p.Gly447Arg
ENST00000369620.6:c.1477G>A ENSP00000358633.2:p.Gly493Arg
ENST00000393562.6:c.1429G>A ENSP00000377192.2:p.Gly477Arg
ENST00000393564.6:c.1339G>A ENSP00000377194.2:p.Gly447Arg
ENST00000490651.1:n.560G>A
ENST00000621232.4:c.1339G>A ENSP00000483686.1:p.Gly447Arg
NM_000402.4:c.1429G>A NP_000393.4:p.Gly477Arg
NM_001042351.2:c.1339G>A NP_001035810.1:p.Gly447Arg
XM_005274657.2:c.1432G>A XP_005274714.1:p.Gly478Arg
XM_005274658.2:c.1342G>A XP_005274715.1:p.Gly448Arg
NM_001360016.2:c.1339G>A MANE Select NP_001346945.1:p.Gly447Arg
NM_001042351.3:c.1339G>A NP_001035810.1:p.Gly447Arg
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