Canonical Allele Identifier: CA519302823

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760280G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532065G>A , CM000685.2:g.154532065G>A	GRCh38
NC_000023.10:g.153760280G>A , CM000685.1:g.153760280G>A	GRCh37
NC_000023.9:g.153413474G>A	NCBI36
NG_009015.2:g.20508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1483C>T	ENSP00000377194.2:p.Leu495=
ENST00000439227.6:c.1486C>T	ENSP00000395599.2:p.Leu496=
ENST00000696420.1:c.1457+123C>T	ENSP00000512615.1:n.1457+123C>T
ENST00000696421.1:c.1457+123C>T	ENSP00000512616.1:n.1457+123C>T
ENST00000696422.1:c.1346C>T
ENST00000696423.1:c.1349C>T
ENST00000696424.1:c.1335C>T	ENSP00000512619.1:n.1335C>T
ENST00000696425.1:c.*396C>T	ENSP00000512620.1:n.*396C>T
ENST00000696426.1:c.*943C>T	ENSP00000512621.1:n.*943C>T
ENST00000696427.1:c.*443C>T	ENSP00000512622.1:n.*443C>T
ENST00000696428.1:c.*1325C>T	ENSP00000512623.1:n.*1325C>T
ENST00000696429.1:c.1483C>T	ENSP00000512624.1:p.Leu495=
ENST00000696430.1:c.1483C>T	ENSP00000512625.1:p.Leu495=
ENST00000393562.10:c.1483C>T MANE Select	ENSP00000377192.3:p.Leu495=
ENST00000369620.6:c.1621C>T	ENSP00000358633.2:p.Leu541=
ENST00000393562.6:c.1573C>T	ENSP00000377192.2:p.Leu525=
ENST00000393564.6:c.1483C>T	ENSP00000377194.2:p.Leu495=
ENST00000621232.4:c.1483C>T	ENSP00000483686.1:p.Leu495=
NM_000402.4:c.1573C>T	NP_000393.4:p.Leu525=
NM_001042351.2:c.1483C>T	NP_001035810.1:p.Leu495=
XM_005274657.2:c.1576C>T	XP_005274714.1:p.Leu526=
XM_005274658.2:c.1486C>T	XP_005274715.1:p.Leu496=
NM_001360016.2:c.1483C>T MANE Select	NP_001346945.1:p.Leu495=
NM_001042351.3:c.1483C>T	NP_001035810.1:p.Leu495=