Canonical Allele Identifier: CA415232004

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760270C>A (hg19) ; chrX:g.154532055C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532055C>A , CM000685.2:g.154532055C>A	GRCh38
NC_000023.10:g.153760270C>A , CM000685.1:g.153760270C>A	GRCh37
NC_000023.9:g.153413464C>A	NCBI36
NG_009015.2:g.20518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1493G>T	ENSP00000377194.2:p.Arg498Ile
ENST00000439227.6:c.1496G>T	ENSP00000395599.2:p.Arg499Ile
ENST00000696420.1:c.1457+133G>T	ENSP00000512615.1:n.1457+133G>T
ENST00000696421.1:c.1457+133G>T	ENSP00000512616.1:n.1457+133G>T
ENST00000696422.1:c.1356G>T
ENST00000696423.1:c.1359G>T
ENST00000696424.1:c.1345G>T	ENSP00000512619.1:n.1345G>T
ENST00000696425.1:c.*406G>T	ENSP00000512620.1:n.*406G>T
ENST00000696426.1:c.*953G>T	ENSP00000512621.1:n.*953G>T
ENST00000696427.1:c.*453G>T	ENSP00000512622.1:n.*453G>T
ENST00000696428.1:c.*1335G>T	ENSP00000512623.1:n.*1335G>T
ENST00000696429.1:c.1493G>T	ENSP00000512624.1:p.Arg498Ile
ENST00000696430.1:c.1493G>T	ENSP00000512625.1:p.Arg498Ile
ENST00000393562.10:c.1493G>T MANE Select	ENSP00000377192.3:p.Arg498Ile
ENST00000369620.6:c.1631G>T	ENSP00000358633.2:p.Arg544Ile
ENST00000393562.6:c.1583G>T	ENSP00000377192.2:p.Arg528Ile
ENST00000393564.6:c.1493G>T	ENSP00000377194.2:p.Arg498Ile
ENST00000621232.4:c.1493G>T	ENSP00000483686.1:p.Arg498Ile
NM_000402.4:c.1583G>T	NP_000393.4:p.Arg528Ile
NM_001042351.2:c.1493G>T	NP_001035810.1:p.Arg498Ile
XM_005274657.2:c.1586G>T	XP_005274714.1:p.Arg529Ile
XM_005274658.2:c.1496G>T	XP_005274715.1:p.Arg499Ile
NM_001360016.2:c.1493G>T MANE Select	NP_001346945.1:p.Arg498Ile
NM_001042351.3:c.1493G>T	NP_001035810.1:p.Arg498Ile