Canonical Allele Identifier: CA121049
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 10414
ClinVar RCV Id: RCV000011158 RCV000066276
dbSNP Id: rs137852347
MyVariant Identifiers: chrX:g.153761244A>G (hg19) chrX:g.154533029A>G (hg38)
PubMed: PMID:11112389
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533029A>G , CM000685.2:g.154533029A>G GRCh38
NC_000023.10:g.153761244A>G , CM000685.1:g.153761244A>G GRCh37
NC_000023.9:g.153414438A>G NCBI36
NG_009015.2:g.19544T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.964T>C ENSP00000377194.2:p.Tyr322His
ENST00000439227.6:c.967T>C ENSP00000395599.2:p.Tyr323His
ENST00000696420.1:c.964T>C ENSP00000512615.1:p.Tyr322His
ENST00000696421.1:c.964T>C ENSP00000512616.1:p.Tyr322His
ENST00000696422.1:c.827T>C
ENST00000696423.1:c.830T>C
ENST00000696424.1:c.816T>C ENSP00000512619.1:n.816T>C
ENST00000696425.1:c.865-227T>C ENSP00000512620.1:n.865-227T>C
ENST00000696426.1:c.*424T>C ENSP00000512621.1:n.*424T>C
ENST00000696427.1:c.971T>C ENSP00000512622.1:p.Val324Ala
ENST00000696428.1:c.*806T>C ENSP00000512623.1:n.*806T>C
ENST00000696429.1:c.964T>C ENSP00000512624.1:p.Tyr322His
ENST00000696430.1:c.964T>C ENSP00000512625.1:p.Tyr322His
ENST00000393562.10:c.964T>C MANE Select ENSP00000377192.3:p.Tyr322His
ENST00000369620.6:c.1102T>C ENSP00000358633.2:p.Tyr368His
ENST00000393562.6:c.1054T>C ENSP00000377192.2:p.Tyr352His
ENST00000393564.6:c.964T>C ENSP00000377194.2:p.Tyr322His
ENST00000439227.5:c.967T>C ENSP00000395599.1:p.Tyr323His
ENST00000490651.1:n.46T>C
ENST00000621232.4:c.964T>C ENSP00000483686.1:p.Tyr322His
NM_000402.4:c.1054T>C NP_000393.4:p.Tyr352His
NM_001042351.2:c.964T>C NP_001035810.1:p.Tyr322His
XM_005274657.2:c.1057T>C XP_005274714.1:p.Tyr353His
XM_005274658.2:c.967T>C XP_005274715.1:p.Tyr323His
XM_011531132.1:c.958-227T>C XP_011529434.1:n.958-227T>C
NM_001360016.2:c.964T>C MANE Select NP_001346945.1:p.Tyr322His
NM_001042351.3:c.964T>C NP_001035810.1:p.Tyr322His
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