Canonical Allele Identifier: CA519303388
Gene: G6PD HGNC NCBI

Linked Data

dbSNP Id: rs2070359499
MyVariant Identifiers: chrX:g.153761212G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532997G>A , CM000685.2:g.154532997G>A GRCh38
NC_000023.10:g.153761212G>A , CM000685.1:g.153761212G>A GRCh37
NC_000023.9:g.153414406G>A NCBI36
NG_009015.2:g.19576C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.996C>T ENSP00000377194.2:p.Ser332=
ENST00000439227.6:c.999C>T ENSP00000395599.2:p.Ser333=
ENST00000696420.1:c.996C>T ENSP00000512615.1:p.Ser332=
ENST00000696421.1:c.996C>T ENSP00000512616.1:p.Ser332=
ENST00000696422.1:c.859C>T
ENST00000696423.1:c.862C>T
ENST00000696424.1:c.848C>T ENSP00000512619.1:n.848C>T
ENST00000696425.1:c.865-195C>T ENSP00000512620.1:n.865-195C>T
ENST00000696426.1:c.*456C>T ENSP00000512621.1:n.*456C>T
ENST00000696427.1:c.1003C>T ENSP00000512622.1:p.His335Tyr
ENST00000696428.1:c.*838C>T ENSP00000512623.1:n.*838C>T
ENST00000696429.1:c.996C>T ENSP00000512624.1:p.Ser332=
ENST00000696430.1:c.996C>T ENSP00000512625.1:p.Ser332=
ENST00000393562.10:c.996C>T MANE Select ENSP00000377192.3:p.Ser332=
ENST00000369620.6:c.1134C>T ENSP00000358633.2:p.Ser378=
ENST00000393562.6:c.1086C>T ENSP00000377192.2:p.Ser362=
ENST00000393564.6:c.996C>T ENSP00000377194.2:p.Ser332=
ENST00000439227.5:c.999C>T ENSP00000395599.1:p.Ser333=
ENST00000490651.1:n.78C>T
ENST00000621232.4:c.996C>T ENSP00000483686.1:p.Ser332=
NM_000402.4:c.1086C>T NP_000393.4:p.Ser362=
NM_001042351.2:c.996C>T NP_001035810.1:p.Ser332=
XM_005274657.2:c.1089C>T XP_005274714.1:p.Ser363=
XM_005274658.2:c.999C>T XP_005274715.1:p.Ser333=
XM_011531132.1:c.958-195C>T XP_011529434.1:n.958-195C>T
NM_001360016.2:c.996C>T MANE Select NP_001346945.1:p.Ser332=
NM_001042351.3:c.996C>T NP_001035810.1:p.Ser332=