Canonical Allele Identifier: CA121006
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 10396
ClinVar RCV Id: RCV000011132 RCV000011133
dbSNP Id: rs137852334
MyVariant Identifiers: chrX:g.153760910G>A (hg19) chrX:g.154532695G>A (hg38)
PubMed: PMID:6344088 PMID:7129446
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532695G>A , CM000685.2:g.154532695G>A GRCh38
NC_000023.10:g.153760910G>A , CM000685.1:g.153760910G>A GRCh37
NC_000023.9:g.153414104G>A NCBI36
NG_009015.2:g.19878C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.1159C>T ENSP00000377194.2:p.Arg387Cys
ENST00000439227.6:c.1162C>T ENSP00000395599.2:p.Arg388Cys
ENST00000696420.1:c.1159C>T ENSP00000512615.1:p.Arg387Cys
ENST00000696421.1:c.1159C>T ENSP00000512616.1:p.Arg387Cys
ENST00000696422.1:c.1022C>T
ENST00000696423.1:c.1025C>T
ENST00000696424.1:c.1011C>T ENSP00000512619.1:n.1011C>T
ENST00000696425.1:c.*72C>T ENSP00000512620.1:n.*72C>T
ENST00000696426.1:c.*619C>T ENSP00000512621.1:n.*619C>T
ENST00000696427.1:c.*119C>T ENSP00000512622.1:n.*119C>T
ENST00000696428.1:c.*1001C>T ENSP00000512623.1:n.*1001C>T
ENST00000696429.1:c.1159C>T ENSP00000512624.1:p.Arg387Cys
ENST00000696430.1:c.1159C>T ENSP00000512625.1:p.Arg387Cys
ENST00000393562.10:c.1159C>T MANE Select ENSP00000377192.3:p.Arg387Cys
ENST00000369620.6:c.1297C>T ENSP00000358633.2:p.Arg433Cys
ENST00000393562.6:c.1249C>T ENSP00000377192.2:p.Arg417Cys
ENST00000393564.6:c.1159C>T ENSP00000377194.2:p.Arg387Cys
ENST00000490651.1:n.380C>T
ENST00000621232.4:c.1159C>T ENSP00000483686.1:p.Arg387Cys
NM_000402.4:c.1249C>T NP_000393.4:p.Arg417Cys
NM_001042351.2:c.1159C>T NP_001035810.1:p.Arg387Cys
XM_005274657.2:c.1252C>T XP_005274714.1:p.Arg418Cys
XM_005274658.2:c.1162C>T XP_005274715.1:p.Arg388Cys
XM_011531132.1:c.*72C>T XP_011529434.1:n.*72C>T
NM_001360016.2:c.1159C>T MANE Select NP_001346945.1:p.Arg387Cys
NM_001042351.3:c.1159C>T NP_001035810.1:p.Arg387Cys
Search 100 bp 5'
Search 100 bp 3'