Canonical Allele Identifier: CA415234103

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722616
• ClinVar RCV Id: RCV002305726
• MyVariant Identifiers: chrX:g.153760915C>A (hg19) ; chrX:g.154532700C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532700C>A , CM000685.2:g.154532700C>A	GRCh38
NC_000023.10:g.153760915C>A , CM000685.1:g.153760915C>A	GRCh37
NC_000023.9:g.153414109C>A	NCBI36
NG_009015.2:g.19873G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1154G>T	ENSP00000377194.2:p.Cys385Phe
ENST00000439227.6:c.1157G>T	ENSP00000395599.2:p.Cys386Phe
ENST00000696420.1:c.1154G>T	ENSP00000512615.1:p.Cys385Phe
ENST00000696421.1:c.1154G>T	ENSP00000512616.1:p.Cys385Phe
ENST00000696422.1:c.1017G>T
ENST00000696423.1:c.1020G>T
ENST00000696424.1:c.1006G>T	ENSP00000512619.1:n.1006G>T
ENST00000696425.1:c.*67G>T	ENSP00000512620.1:n.*67G>T
ENST00000696426.1:c.*614G>T	ENSP00000512621.1:n.*614G>T
ENST00000696427.1:c.*114G>T	ENSP00000512622.1:n.*114G>T
ENST00000696428.1:c.*996G>T	ENSP00000512623.1:n.*996G>T
ENST00000696429.1:c.1154G>T	ENSP00000512624.1:p.Cys385Phe
ENST00000696430.1:c.1154G>T	ENSP00000512625.1:p.Cys385Phe
ENST00000393562.10:c.1154G>T MANE Select	ENSP00000377192.3:p.Cys385Phe
ENST00000369620.6:c.1292G>T	ENSP00000358633.2:p.Cys431Phe
ENST00000393562.6:c.1244G>T	ENSP00000377192.2:p.Cys415Phe
ENST00000393564.6:c.1154G>T	ENSP00000377194.2:p.Cys385Phe
ENST00000490651.1:n.375G>T
ENST00000621232.4:c.1154G>T	ENSP00000483686.1:p.Cys385Phe
NM_000402.4:c.1244G>T	NP_000393.4:p.Cys415Phe
NM_001042351.2:c.1154G>T	NP_001035810.1:p.Cys385Phe
XM_005274657.2:c.1247G>T	XP_005274714.1:p.Cys416Phe
XM_005274658.2:c.1157G>T	XP_005274715.1:p.Cys386Phe
XM_011531132.1:c.*67G>T	XP_011529434.1:n.*67G>T
NM_001360016.2:c.1154G>T MANE Select	NP_001346945.1:p.Cys385Phe
NM_001042351.3:c.1154G>T	NP_001035810.1:p.Cys385Phe