Canonical Allele Identifier: CA120972
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 10377
ClinVar RCV Id: RCV000011101 RCV002305429
dbSNP Id: rs137852322
MyVariant Identifiers: chrX:g.153760916A>G (hg19) chrX:g.154532701A>G (hg38)
PubMed: PMID:2602358
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532701A>G , CM000685.2:g.154532701A>G GRCh38
NC_000023.10:g.153760916A>G , CM000685.1:g.153760916A>G GRCh37
NC_000023.9:g.153414110A>G NCBI36
NG_009015.2:g.19872T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.1153T>C ENSP00000377194.2:p.Cys385Arg
ENST00000439227.6:c.1156T>C ENSP00000395599.2:p.Cys386Arg
ENST00000696420.1:c.1153T>C ENSP00000512615.1:p.Cys385Arg
ENST00000696421.1:c.1153T>C ENSP00000512616.1:p.Cys385Arg
ENST00000696422.1:c.1016T>C
ENST00000696423.1:c.1019T>C
ENST00000696424.1:c.1005T>C ENSP00000512619.1:n.1005T>C
ENST00000696425.1:c.*66T>C ENSP00000512620.1:n.*66T>C
ENST00000696426.1:c.*613T>C ENSP00000512621.1:n.*613T>C
ENST00000696427.1:c.*113T>C ENSP00000512622.1:n.*113T>C
ENST00000696428.1:c.*995T>C ENSP00000512623.1:n.*995T>C
ENST00000696429.1:c.1153T>C ENSP00000512624.1:p.Cys385Arg
ENST00000696430.1:c.1153T>C ENSP00000512625.1:p.Cys385Arg
ENST00000393562.10:c.1153T>C MANE Select ENSP00000377192.3:p.Cys385Arg
ENST00000369620.6:c.1291T>C ENSP00000358633.2:p.Cys431Arg
ENST00000393562.6:c.1243T>C ENSP00000377192.2:p.Cys415Arg
ENST00000393564.6:c.1153T>C ENSP00000377194.2:p.Cys385Arg
ENST00000490651.1:n.374T>C
ENST00000621232.4:c.1153T>C ENSP00000483686.1:p.Cys385Arg
NM_000402.4:c.1243T>C NP_000393.4:p.Cys415Arg
NM_001042351.2:c.1153T>C NP_001035810.1:p.Cys385Arg
XM_005274657.2:c.1246T>C XP_005274714.1:p.Cys416Arg
XM_005274658.2:c.1156T>C XP_005274715.1:p.Cys386Arg
XM_011531132.1:c.*66T>C XP_011529434.1:n.*66T>C
NM_001360016.2:c.1153T>C MANE Select NP_001346945.1:p.Cys385Arg
NM_001042351.3:c.1153T>C NP_001035810.1:p.Cys385Arg
Search 100 bp 5'
Search 100 bp 3'