Canonical Allele Identifier: CA415232140

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722688
• ClinVar RCV Id: RCV002305798
• MyVariant Identifiers: chrX:g.153760300C>A (hg19) ; chrX:g.154532085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532085C>A , CM000685.2:g.154532085C>A	GRCh38
NC_000023.10:g.153760300C>A , CM000685.1:g.153760300C>A	GRCh37
NC_000023.9:g.153413494C>A	NCBI36
NG_009015.2:g.20488G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1463G>T	ENSP00000377194.2:p.Gly488Val
ENST00000439227.6:c.1466G>T	ENSP00000395599.2:p.Gly489Val
ENST00000696420.1:c.1457+103G>T	ENSP00000512615.1:n.1457+103G>T
ENST00000696421.1:c.1457+103G>T	ENSP00000512616.1:n.1457+103G>T
ENST00000696422.1:c.1326G>T
ENST00000696423.1:c.1329G>T
ENST00000696424.1:c.1315G>T	ENSP00000512619.1:n.1315G>T
ENST00000696425.1:c.*376G>T	ENSP00000512620.1:n.*376G>T
ENST00000696426.1:c.*923G>T	ENSP00000512621.1:n.*923G>T
ENST00000696427.1:c.*423G>T	ENSP00000512622.1:n.*423G>T
ENST00000696428.1:c.*1305G>T	ENSP00000512623.1:n.*1305G>T
ENST00000696429.1:c.1463G>T	ENSP00000512624.1:p.Gly488Val
ENST00000696430.1:c.1463G>T	ENSP00000512625.1:p.Gly488Val
ENST00000393562.10:c.1463G>T MANE Select	ENSP00000377192.3:p.Gly488Val
ENST00000369620.6:c.1601G>T	ENSP00000358633.2:p.Gly534Val
ENST00000393562.6:c.1553G>T	ENSP00000377192.2:p.Gly518Val
ENST00000393564.6:c.1463G>T	ENSP00000377194.2:p.Gly488Val
ENST00000490651.1:n.781G>T
ENST00000621232.4:c.1463G>T	ENSP00000483686.1:p.Gly488Val
NM_000402.4:c.1553G>T	NP_000393.4:p.Gly518Val
NM_001042351.2:c.1463G>T	NP_001035810.1:p.Gly488Val
XM_005274657.2:c.1556G>T	XP_005274714.1:p.Gly519Val
XM_005274658.2:c.1466G>T	XP_005274715.1:p.Gly489Val
NM_001360016.2:c.1463G>T MANE Select	NP_001346945.1:p.Gly488Val
NM_001042351.3:c.1463G>T	NP_001035810.1:p.Gly488Val