Canonical Allele Identifier: CA415233645

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722627
• ClinVar RCV Id: RCV002305737
• gnomAD v4: X-154532399-G-A
• MyVariant Identifiers: chrX:g.153760614G>A (hg19) ; chrX:g.154532399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532399G>A , CM000685.2:g.154532399G>A	GRCh38
NC_000023.10:g.153760614G>A , CM000685.1:g.153760614G>A	GRCh37
NC_000023.9:g.153413808G>A	NCBI36
NG_009015.2:g.20174C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1351C>T	ENSP00000377194.2:p.His451Tyr
ENST00000439227.6:c.1354C>T	ENSP00000395599.2:p.His452Tyr
ENST00000696420.1:c.1351C>T	ENSP00000512615.1:p.His451Tyr
ENST00000696421.1:c.1351C>T	ENSP00000512616.1:p.His451Tyr
ENST00000696422.1:c.1214C>T
ENST00000696423.1:c.1217C>T
ENST00000696424.1:c.1203C>T	ENSP00000512619.1:n.1203C>T
ENST00000696425.1:c.*264C>T	ENSP00000512620.1:n.*264C>T
ENST00000696426.1:c.*811C>T	ENSP00000512621.1:n.*811C>T
ENST00000696427.1:c.*311C>T	ENSP00000512622.1:n.*311C>T
ENST00000696428.1:c.*1193C>T	ENSP00000512623.1:n.*1193C>T
ENST00000696429.1:c.1351C>T	ENSP00000512624.1:p.His451Tyr
ENST00000696430.1:c.1351C>T	ENSP00000512625.1:p.His451Tyr
ENST00000393562.10:c.1351C>T MANE Select	ENSP00000377192.3:p.His451Tyr
ENST00000369620.6:c.1489C>T	ENSP00000358633.2:p.His497Tyr
ENST00000393562.6:c.1441C>T	ENSP00000377192.2:p.His481Tyr
ENST00000393564.6:c.1351C>T	ENSP00000377194.2:p.His451Tyr
ENST00000490651.1:n.572C>T
ENST00000621232.4:c.1351C>T	ENSP00000483686.1:p.His451Tyr
NM_000402.4:c.1441C>T	NP_000393.4:p.His481Tyr
NM_001042351.2:c.1351C>T	NP_001035810.1:p.His451Tyr
XM_005274657.2:c.1444C>T	XP_005274714.1:p.His482Tyr
XM_005274658.2:c.1354C>T	XP_005274715.1:p.His452Tyr
NM_001360016.2:c.1351C>T MANE Select	NP_001346945.1:p.His451Tyr
NM_001042351.3:c.1351C>T	NP_001035810.1:p.His451Tyr