Canonical Allele Identifier: CA519714386

Gene: G6PD

Linked Data

• gnomAD v4: X-154532415-G-A
• COSMIC: COSM5628366 ; COSM5628367 ; COSM5628368
• MyVariant Identifiers: chrX:g.153760630G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532415G>A , CM000685.2:g.154532415G>A	GRCh38
NC_000023.10:g.153760630G>A , CM000685.1:g.153760630G>A	GRCh37
NC_000023.9:g.153413824G>A	NCBI36
NG_009015.2:g.20158C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1335C>T	ENSP00000377194.2:p.Phe445=
ENST00000439227.6:c.1338C>T	ENSP00000395599.2:p.Phe446=
ENST00000696420.1:c.1335C>T	ENSP00000512615.1:p.Phe445=
ENST00000696421.1:c.1335C>T	ENSP00000512616.1:p.Phe445=
ENST00000696422.1:c.1198C>T
ENST00000696423.1:c.1201C>T
ENST00000696424.1:c.1187C>T	ENSP00000512619.1:n.1187C>T
ENST00000696425.1:c.*248C>T	ENSP00000512620.1:n.*248C>T
ENST00000696426.1:c.*795C>T	ENSP00000512621.1:n.*795C>T
ENST00000696427.1:c.*295C>T	ENSP00000512622.1:n.*295C>T
ENST00000696428.1:c.*1177C>T	ENSP00000512623.1:n.*1177C>T
ENST00000696429.1:c.1335C>T	ENSP00000512624.1:p.Phe445=
ENST00000696430.1:c.1335C>T	ENSP00000512625.1:p.Phe445=
ENST00000393562.10:c.1335C>T MANE Select	ENSP00000377192.3:p.Phe445=
ENST00000369620.6:c.1473C>T	ENSP00000358633.2:p.Phe491=
ENST00000393562.6:c.1425C>T	ENSP00000377192.2:p.Phe475=
ENST00000393564.6:c.1335C>T	ENSP00000377194.2:p.Phe445=
ENST00000490651.1:n.556C>T
ENST00000621232.4:c.1335C>T	ENSP00000483686.1:p.Phe445=
NM_000402.4:c.1425C>T	NP_000393.4:p.Phe475=
NM_001042351.2:c.1335C>T	NP_001035810.1:p.Phe445=
XM_005274657.2:c.1428C>T	XP_005274714.1:p.Phe476=
XM_005274658.2:c.1338C>T	XP_005274715.1:p.Phe446=
NM_001360016.2:c.1335C>T MANE Select	NP_001346945.1:p.Phe445=
NM_001042351.3:c.1335C>T	NP_001035810.1:p.Phe445=