Canonical Allele Identifier: CA120955
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 100057
dbSNP Id: rs5030868

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534419G>A , CM000685.2:g.154534419G>A GRCh38
NC_000023.10:g.153762634G>A , CM000685.1:g.153762634G>A GRCh37
NC_000023.9:g.153415828G>A NCBI36
NG_009015.2:g.18154C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.563C>T ENSP00000377194.2:p.Ser188Phe
ENST00000439227.6:c.566C>T ENSP00000395599.2:p.Ser189Phe
ENST00000696420.1:c.563C>T ENSP00000512615.1:p.Ser188Phe
ENST00000696421.1:c.563C>T ENSP00000512616.1:p.Ser188Phe
ENST00000696422.1:c.426C>T
ENST00000696423.1:c.429C>T
ENST00000696424.1:c.443C>T ENSP00000512619.1:p.Ser148Phe
ENST00000696425.1:c.563C>T ENSP00000512620.1:p.Ser188Phe
ENST00000696426.1:c.563C>T ENSP00000512621.1:p.Ser188Phe
ENST00000696427.1:c.563C>T ENSP00000512622.1:p.Ser188Phe
ENST00000696428.1:c.*405C>T ENSP00000512623.1:n.*405C>T
ENST00000696429.1:c.563C>T ENSP00000512624.1:p.Ser188Phe
ENST00000696430.1:c.563C>T ENSP00000512625.1:p.Ser188Phe
ENST00000393562.10:c.563C>T MANE Select ENSP00000377192.3:p.Ser188Phe
ENST00000369620.6:c.563C>T ENSP00000358633.2:p.Ser188Phe
ENST00000393562.6:c.653C>T ENSP00000377192.2:p.Ser218Phe
ENST00000393564.6:c.563C>T ENSP00000377194.2:p.Ser188Phe
ENST00000433845.1:c.563C>T ENSP00000394690.1:p.Ser188Phe
ENST00000439227.5:c.566C>T ENSP00000395599.1:p.Ser189Phe
ENST00000440967.5:c.566C>T ENSP00000400648.1:p.Ser189Phe
ENST00000621232.4:c.563C>T ENSP00000483686.1:p.Ser188Phe
NM_000402.4:c.653C>T NP_000393.4:p.Ser218Phe
NM_001042351.2:c.563C>T NP_001035810.1:p.Ser188Phe
XM_005274657.2:c.656C>T XP_005274714.1:p.Ser219Phe
XM_005274658.2:c.566C>T XP_005274715.1:p.Ser189Phe
XM_011531132.1:c.656C>T XP_011529434.1:p.Ser219Phe
NM_001360016.2:c.563C>T MANE Select NP_001346945.1:p.Ser188Phe
NM_001042351.3:c.563C>T NP_001035810.1:p.Ser188Phe