Canonical Allele Identifier: CA519714371
Gene: G6PD HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153760606C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532391C>T , CM000685.2:g.154532391C>T GRCh38
NC_000023.10:g.153760606C>T , CM000685.1:g.153760606C>T GRCh37
NC_000023.9:g.153413800C>T NCBI36
NG_009015.2:g.20182G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1359G>A ENSP00000377194.2:p.Val453=
ENST00000439227.6:c.1362G>A ENSP00000395599.2:p.Val454=
ENST00000696420.1:c.1359G>A ENSP00000512615.1:p.Val453=
ENST00000696421.1:c.1359G>A ENSP00000512616.1:p.Val453=
ENST00000696422.1:c.1222G>A
ENST00000696423.1:c.1225G>A
ENST00000696424.1:c.1211G>A ENSP00000512619.1:n.1211G>A
ENST00000696425.1:c.*272G>A ENSP00000512620.1:n.*272G>A
ENST00000696426.1:c.*819G>A ENSP00000512621.1:n.*819G>A
ENST00000696427.1:c.*319G>A ENSP00000512622.1:n.*319G>A
ENST00000696428.1:c.*1201G>A ENSP00000512623.1:n.*1201G>A
ENST00000696429.1:c.1359G>A ENSP00000512624.1:p.Val453=
ENST00000696430.1:c.1359G>A ENSP00000512625.1:p.Val453=
ENST00000393562.10:c.1359G>A MANE Select ENSP00000377192.3:p.Val453=
ENST00000369620.6:c.1497G>A ENSP00000358633.2:p.Val499=
ENST00000393562.6:c.1449G>A ENSP00000377192.2:p.Val483=
ENST00000393564.6:c.1359G>A ENSP00000377194.2:p.Val453=
ENST00000490651.1:n.580G>A
ENST00000621232.4:c.1359G>A ENSP00000483686.1:p.Val453=
NM_000402.4:c.1449G>A NP_000393.4:p.Val483=
NM_001042351.2:c.1359G>A NP_001035810.1:p.Val453=
XM_005274657.2:c.1452G>A XP_005274714.1:p.Val484=
XM_005274658.2:c.1362G>A XP_005274715.1:p.Val454=
NM_001360016.2:c.1359G>A MANE Select NP_001346945.1:p.Val453=
NM_001042351.3:c.1359G>A NP_001035810.1:p.Val453=