Canonical Allele Identifier: CA415232133

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722689
• ClinVar RCV Id: RCV002305799
• MyVariant Identifiers: chrX:g.153760297G>A (hg19) ; chrX:g.154532082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532082G>A , CM000685.2:g.154532082G>A	GRCh38
NC_000023.10:g.153760297G>A , CM000685.1:g.153760297G>A	GRCh37
NC_000023.9:g.153413491G>A	NCBI36
NG_009015.2:g.20491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1466C>T	ENSP00000377194.2:p.Pro489Leu
ENST00000439227.6:c.1469C>T	ENSP00000395599.2:p.Pro490Leu
ENST00000696420.1:c.1457+106C>T	ENSP00000512615.1:n.1457+106C>T
ENST00000696421.1:c.1457+106C>T	ENSP00000512616.1:n.1457+106C>T
ENST00000696422.1:c.1329C>T
ENST00000696423.1:c.1332C>T
ENST00000696424.1:c.1318C>T	ENSP00000512619.1:n.1318C>T
ENST00000696425.1:c.*379C>T	ENSP00000512620.1:n.*379C>T
ENST00000696426.1:c.*926C>T	ENSP00000512621.1:n.*926C>T
ENST00000696427.1:c.*426C>T	ENSP00000512622.1:n.*426C>T
ENST00000696428.1:c.*1308C>T	ENSP00000512623.1:n.*1308C>T
ENST00000696429.1:c.1466C>T	ENSP00000512624.1:p.Pro489Leu
ENST00000696430.1:c.1466C>T	ENSP00000512625.1:p.Pro489Leu
ENST00000393562.10:c.1466C>T MANE Select	ENSP00000377192.3:p.Pro489Leu
ENST00000369620.6:c.1604C>T	ENSP00000358633.2:p.Pro535Leu
ENST00000393562.6:c.1556C>T	ENSP00000377192.2:p.Pro519Leu
ENST00000393564.6:c.1466C>T	ENSP00000377194.2:p.Pro489Leu
ENST00000621232.4:c.1466C>T	ENSP00000483686.1:p.Pro489Leu
NM_000402.4:c.1556C>T	NP_000393.4:p.Pro519Leu
NM_001042351.2:c.1466C>T	NP_001035810.1:p.Pro489Leu
XM_005274657.2:c.1559C>T	XP_005274714.1:p.Pro520Leu
XM_005274658.2:c.1469C>T	XP_005274715.1:p.Pro490Leu
NM_001360016.2:c.1466C>T MANE Select	NP_001346945.1:p.Pro489Leu
NM_001042351.3:c.1466C>T	NP_001035810.1:p.Pro489Leu