Canonical Allele Identifier: CA415234130

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1685831
• ClinVar RCV Id: RCV002249998
• dbSNP Id: rs2148328905
• MyVariant Identifiers: chrX:g.153760926G>C (hg19) ; chrX:g.154532711G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532711G>C , CM000685.2:g.154532711G>C	GRCh38
NC_000023.10:g.153760926G>C , CM000685.1:g.153760926G>C	GRCh37
NC_000023.9:g.153414120G>C	NCBI36
NG_009015.2:g.19862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1143C>G	ENSP00000377194.2:p.Phe381Leu
ENST00000439227.6:c.1146C>G	ENSP00000395599.2:p.Phe382Leu
ENST00000696420.1:c.1143C>G	ENSP00000512615.1:p.Phe381Leu
ENST00000696421.1:c.1143C>G	ENSP00000512616.1:p.Phe381Leu
ENST00000696422.1:c.1006C>G
ENST00000696423.1:c.1009C>G
ENST00000696424.1:c.995C>G	ENSP00000512619.1:n.995C>G
ENST00000696425.1:c.*56C>G	ENSP00000512620.1:n.*56C>G
ENST00000696426.1:c.*603C>G	ENSP00000512621.1:n.*603C>G
ENST00000696427.1:c.*103C>G	ENSP00000512622.1:n.*103C>G
ENST00000696428.1:c.*985C>G	ENSP00000512623.1:n.*985C>G
ENST00000696429.1:c.1143C>G	ENSP00000512624.1:p.Phe381Leu
ENST00000696430.1:c.1143C>G	ENSP00000512625.1:p.Phe381Leu
ENST00000393562.10:c.1143C>G MANE Select	ENSP00000377192.3:p.Phe381Leu
ENST00000369620.6:c.1281C>G	ENSP00000358633.2:p.Phe427Leu
ENST00000393562.6:c.1233C>G	ENSP00000377192.2:p.Phe411Leu
ENST00000393564.6:c.1143C>G	ENSP00000377194.2:p.Phe381Leu
ENST00000490651.1:n.364C>G
ENST00000621232.4:c.1143C>G	ENSP00000483686.1:p.Phe381Leu
NM_000402.4:c.1233C>G	NP_000393.4:p.Phe411Leu
NM_001042351.2:c.1143C>G	NP_001035810.1:p.Phe381Leu
XM_005274657.2:c.1236C>G	XP_005274714.1:p.Phe412Leu
XM_005274658.2:c.1146C>G	XP_005274715.1:p.Phe382Leu
XM_011531132.1:c.*56C>G	XP_011529434.1:n.*56C>G
NM_001360016.2:c.1143C>G MANE Select	NP_001346945.1:p.Phe381Leu
NM_001042351.3:c.1143C>G	NP_001035810.1:p.Phe381Leu