Canonical Allele Identifier: CA415232628

Gene: G6PD

Linked Data

• COSMIC: COSM4794392 ; COSM4794393 ; COSM4794394
• MyVariant Identifiers: chrX:g.153760478G>A (hg19) ; chrX:g.154532263G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532263G>A , CM000685.2:g.154532263G>A	GRCh38
NC_000023.10:g.153760478G>A , CM000685.1:g.153760478G>A	GRCh37
NC_000023.9:g.153413672G>A	NCBI36
NG_009015.2:g.20310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1382C>T	ENSP00000377194.2:p.Ala461Val
ENST00000439227.6:c.1385C>T	ENSP00000395599.2:p.Ala462Val
ENST00000696420.1:c.1382C>T	ENSP00000512615.1:p.Ala461Val
ENST00000696421.1:c.1382C>T	ENSP00000512616.1:p.Ala461Val
ENST00000696422.1:c.1245C>T
ENST00000696423.1:c.1248C>T
ENST00000696424.1:c.1234C>T	ENSP00000512619.1:n.1234C>T
ENST00000696425.1:c.*295C>T	ENSP00000512620.1:n.*295C>T
ENST00000696426.1:c.*842C>T	ENSP00000512621.1:n.*842C>T
ENST00000696427.1:c.*342C>T	ENSP00000512622.1:n.*342C>T
ENST00000696428.1:c.*1224C>T	ENSP00000512623.1:n.*1224C>T
ENST00000696429.1:c.1382C>T	ENSP00000512624.1:p.Ala461Val
ENST00000696430.1:c.1382C>T	ENSP00000512625.1:p.Ala461Val
ENST00000393562.10:c.1382C>T MANE Select	ENSP00000377192.3:p.Ala461Val
ENST00000369620.6:c.1520C>T	ENSP00000358633.2:p.Ala507Val
ENST00000393562.6:c.1472C>T	ENSP00000377192.2:p.Ala491Val
ENST00000393564.6:c.1382C>T	ENSP00000377194.2:p.Ala461Val
ENST00000490651.1:n.603C>T
ENST00000621232.4:c.1382C>T	ENSP00000483686.1:p.Ala461Val
NM_000402.4:c.1472C>T	NP_000393.4:p.Ala491Val
NM_001042351.2:c.1382C>T	NP_001035810.1:p.Ala461Val
XM_005274657.2:c.1475C>T	XP_005274714.1:p.Ala492Val
XM_005274658.2:c.1385C>T	XP_005274715.1:p.Ala462Val
NM_001360016.2:c.1382C>T MANE Select	NP_001346945.1:p.Ala461Val
NM_001042351.3:c.1382C>T	NP_001035810.1:p.Ala461Val