Canonical Allele Identifier: CA519303762
Gene: G6PD HGNC NCBI

Linked Data

dbSNP Id: rs1557229926
MyVariant Identifiers: chrX:g.153761338C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533123C>T , CM000685.2:g.154533123C>T GRCh38
NC_000023.10:g.153761338C>T , CM000685.1:g.153761338C>T GRCh37
NC_000023.9:g.153414532C>T NCBI36
NG_009015.2:g.19450G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.870G>A ENSP00000377194.2:p.Lys290=
ENST00000439227.6:c.873G>A ENSP00000395599.2:p.Lys291=
ENST00000696420.1:c.870G>A ENSP00000512615.1:p.Lys290=
ENST00000696421.1:c.870G>A ENSP00000512616.1:p.Lys290=
ENST00000696422.1:c.733G>A
ENST00000696423.1:c.736G>A
ENST00000696424.1:c.722G>A ENSP00000512619.1:p.Arg241Lys
ENST00000696425.1:c.865-321G>A ENSP00000512620.1:n.865-321G>A
ENST00000696426.1:c.*330G>A ENSP00000512621.1:n.*330G>A
ENST00000696427.1:c.877G>A ENSP00000512622.1:p.Gly293Ser
ENST00000696428.1:c.*712G>A ENSP00000512623.1:n.*712G>A
ENST00000696429.1:c.870G>A ENSP00000512624.1:p.Lys290=
ENST00000696430.1:c.870G>A ENSP00000512625.1:p.Lys290=
ENST00000393562.10:c.870G>A MANE Select ENSP00000377192.3:p.Lys290=
ENST00000369620.6:c.1008G>A ENSP00000358633.2:p.Lys336=
ENST00000393562.6:c.960G>A ENSP00000377192.2:p.Lys320=
ENST00000393564.6:c.870G>A ENSP00000377194.2:p.Lys290=
ENST00000439227.5:c.873G>A ENSP00000395599.1:p.Lys291=
ENST00000440967.5:c.873G>A ENSP00000400648.1:p.Lys291=
ENST00000621232.4:c.870G>A ENSP00000483686.1:p.Lys290=
NM_000402.4:c.960G>A NP_000393.4:p.Lys320=
NM_001042351.2:c.870G>A NP_001035810.1:p.Lys290=
XM_005274657.2:c.963G>A XP_005274714.1:p.Lys321=
XM_005274658.2:c.873G>A XP_005274715.1:p.Lys291=
XM_011531132.1:c.958-321G>A XP_011529434.1:n.958-321G>A
NM_001360016.2:c.870G>A MANE Select NP_001346945.1:p.Lys290=
NM_001042351.3:c.870G>A NP_001035810.1:p.Lys290=