Canonical Allele Identifier: CA120998
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 10391
dbSNP Id: rs137852330

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534390G>A , CM000685.2:g.154534390G>A GRCh38
NC_000023.10:g.153762605G>A , CM000685.1:g.153762605G>A GRCh37
NC_000023.9:g.153415799G>A NCBI36
NG_009015.2:g.18183C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.592C>T ENSP00000377194.2:p.Arg198Cys
ENST00000439227.6:c.595C>T ENSP00000395599.2:p.Arg199Cys
ENST00000696420.1:c.592C>T ENSP00000512615.1:p.Arg198Cys
ENST00000696421.1:c.592C>T ENSP00000512616.1:p.Arg198Cys
ENST00000696422.1:c.455C>T
ENST00000696423.1:c.458C>T
ENST00000696424.1:c.472C>T ENSP00000512619.1:p.Arg158Cys
ENST00000696425.1:c.592C>T ENSP00000512620.1:p.Arg198Cys
ENST00000696426.1:c.592C>T ENSP00000512621.1:p.Arg198Cys
ENST00000696427.1:c.592C>T ENSP00000512622.1:p.Arg198Cys
ENST00000696428.1:c.*434C>T ENSP00000512623.1:n.*434C>T
ENST00000696429.1:c.592C>T ENSP00000512624.1:p.Arg198Cys
ENST00000696430.1:c.592C>T ENSP00000512625.1:p.Arg198Cys
ENST00000393562.10:c.592C>T MANE Select ENSP00000377192.3:p.Arg198Cys
ENST00000369620.6:c.592C>T ENSP00000358633.2:p.Arg198Cys
ENST00000393562.6:c.682C>T ENSP00000377192.2:p.Arg228Cys
ENST00000393564.6:c.592C>T ENSP00000377194.2:p.Arg198Cys
ENST00000433845.1:c.592C>T ENSP00000394690.1:p.Arg198Cys
ENST00000439227.5:c.595C>T ENSP00000395599.1:p.Arg199Cys
ENST00000440967.5:c.595C>T ENSP00000400648.1:p.Arg199Cys
ENST00000621232.4:c.592C>T ENSP00000483686.1:p.Arg198Cys
NM_000402.4:c.682C>T NP_000393.4:p.Arg228Cys
NM_001042351.2:c.592C>T NP_001035810.1:p.Arg198Cys
XM_005274657.2:c.685C>T XP_005274714.1:p.Arg229Cys
XM_005274658.2:c.595C>T XP_005274715.1:p.Arg199Cys
XM_011531132.1:c.685C>T XP_011529434.1:p.Arg229Cys
NM_001360016.2:c.592C>T MANE Select NP_001346945.1:p.Arg198Cys
NM_001042351.3:c.592C>T NP_001035810.1:p.Arg198Cys