Canonical Allele Identifier: CA519714487

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760901G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532686G>A , CM000685.2:g.154532686G>A	GRCh38
NC_000023.10:g.153760901G>A , CM000685.1:g.153760901G>A	GRCh37
NC_000023.9:g.153414095G>A	NCBI36
NG_009015.2:g.19887C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1168C>T	ENSP00000377194.2:p.Leu390=
ENST00000439227.6:c.1171C>T	ENSP00000395599.2:p.Leu391=
ENST00000696420.1:c.1168C>T	ENSP00000512615.1:p.Leu390=
ENST00000696421.1:c.1168C>T	ENSP00000512616.1:p.Leu390=
ENST00000696422.1:c.1031C>T
ENST00000696423.1:c.1034C>T
ENST00000696424.1:c.1020C>T	ENSP00000512619.1:n.1020C>T
ENST00000696425.1:c.*81C>T	ENSP00000512620.1:n.*81C>T
ENST00000696426.1:c.*628C>T	ENSP00000512621.1:n.*628C>T
ENST00000696427.1:c.*128C>T	ENSP00000512622.1:n.*128C>T
ENST00000696428.1:c.*1010C>T	ENSP00000512623.1:n.*1010C>T
ENST00000696429.1:c.1168C>T	ENSP00000512624.1:p.Leu390=
ENST00000696430.1:c.1168C>T	ENSP00000512625.1:p.Leu390=
ENST00000393562.10:c.1168C>T MANE Select	ENSP00000377192.3:p.Leu390=
ENST00000369620.6:c.1306C>T	ENSP00000358633.2:p.Leu436=
ENST00000393562.6:c.1258C>T	ENSP00000377192.2:p.Leu420=
ENST00000393564.6:c.1168C>T	ENSP00000377194.2:p.Leu390=
ENST00000490651.1:n.389C>T
ENST00000621232.4:c.1168C>T	ENSP00000483686.1:p.Leu390=
NM_000402.4:c.1258C>T	NP_000393.4:p.Leu420=
NM_001042351.2:c.1168C>T	NP_001035810.1:p.Leu390=
XM_005274657.2:c.1261C>T	XP_005274714.1:p.Leu421=
XM_005274658.2:c.1171C>T	XP_005274715.1:p.Leu391=
XM_011531132.1:c.*81C>T	XP_011529434.1:n.*81C>T
NM_001360016.2:c.1168C>T MANE Select	NP_001346945.1:p.Leu390=
NM_001042351.3:c.1168C>T	NP_001035810.1:p.Leu390=