Canonical Allele Identifier: CA519303495

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761242G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533027G>A , CM000685.2:g.154533027G>A	GRCh38
NC_000023.10:g.153761242G>A , CM000685.1:g.153761242G>A	GRCh37
NC_000023.9:g.153414436G>A	NCBI36
NG_009015.2:g.19546C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.966C>T	ENSP00000377194.2:p.Tyr322=
ENST00000439227.6:c.969C>T	ENSP00000395599.2:p.Tyr323=
ENST00000696420.1:c.966C>T	ENSP00000512615.1:p.Tyr322=
ENST00000696421.1:c.966C>T	ENSP00000512616.1:p.Tyr322=
ENST00000696422.1:c.829C>T
ENST00000696423.1:c.832C>T
ENST00000696424.1:c.818C>T	ENSP00000512619.1:n.818C>T
ENST00000696425.1:c.865-225C>T	ENSP00000512620.1:n.865-225C>T
ENST00000696426.1:c.*426C>T	ENSP00000512621.1:n.*426C>T
ENST00000696427.1:c.973C>T	ENSP00000512622.1:p.Pro325Ser
ENST00000696428.1:c.*808C>T	ENSP00000512623.1:n.*808C>T
ENST00000696429.1:c.966C>T	ENSP00000512624.1:p.Tyr322=
ENST00000696430.1:c.966C>T	ENSP00000512625.1:p.Tyr322=
ENST00000393562.10:c.966C>T MANE Select	ENSP00000377192.3:p.Tyr322=
ENST00000369620.6:c.1104C>T	ENSP00000358633.2:p.Tyr368=
ENST00000393562.6:c.1056C>T	ENSP00000377192.2:p.Tyr352=
ENST00000393564.6:c.966C>T	ENSP00000377194.2:p.Tyr322=
ENST00000439227.5:c.969C>T	ENSP00000395599.1:p.Tyr323=
ENST00000490651.1:n.48C>T
ENST00000621232.4:c.966C>T	ENSP00000483686.1:p.Tyr322=
NM_000402.4:c.1056C>T	NP_000393.4:p.Tyr352=
NM_001042351.2:c.966C>T	NP_001035810.1:p.Tyr322=
XM_005274657.2:c.1059C>T	XP_005274714.1:p.Tyr353=
XM_005274658.2:c.969C>T	XP_005274715.1:p.Tyr323=
XM_011531132.1:c.958-225C>T	XP_011529434.1:n.958-225C>T
NM_001360016.2:c.966C>T MANE Select	NP_001346945.1:p.Tyr322=
NM_001042351.3:c.966C>T	NP_001035810.1:p.Tyr322=