Canonical Allele Identifier: CA415234794

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761300A>G (hg19) ; chrX:g.154533085A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533085A>G , CM000685.2:g.154533085A>G	GRCh38
NC_000023.10:g.153761300A>G , CM000685.1:g.153761300A>G	GRCh37
NC_000023.9:g.153414494A>G	NCBI36
NG_009015.2:g.19488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.908T>C	ENSP00000377194.2:p.Val303Ala
ENST00000439227.6:c.911T>C	ENSP00000395599.2:p.Val304Ala
ENST00000696420.1:c.908T>C	ENSP00000512615.1:p.Val303Ala
ENST00000696421.1:c.908T>C	ENSP00000512616.1:p.Val303Ala
ENST00000696422.1:c.771T>C
ENST00000696423.1:c.774T>C
ENST00000696424.1:c.760T>C	ENSP00000512619.1:n.760T>C
ENST00000696425.1:c.865-283T>C	ENSP00000512620.1:n.865-283T>C
ENST00000696426.1:c.*368T>C	ENSP00000512621.1:n.*368T>C
ENST00000696427.1:c.915T>C	ENSP00000512622.1:p.Cys305=
ENST00000696428.1:c.*750T>C	ENSP00000512623.1:n.*750T>C
ENST00000696429.1:c.908T>C	ENSP00000512624.1:p.Val303Ala
ENST00000696430.1:c.908T>C	ENSP00000512625.1:p.Val303Ala
ENST00000393562.10:c.908T>C MANE Select	ENSP00000377192.3:p.Val303Ala
ENST00000369620.6:c.1046T>C	ENSP00000358633.2:p.Val349Ala
ENST00000393562.6:c.998T>C	ENSP00000377192.2:p.Val333Ala
ENST00000393564.6:c.908T>C	ENSP00000377194.2:p.Val303Ala
ENST00000439227.5:c.911T>C	ENSP00000395599.1:p.Val304Ala
ENST00000440967.5:c.911T>C	ENSP00000400648.1:p.Val304Ala
ENST00000621232.4:c.908T>C	ENSP00000483686.1:p.Val303Ala
NM_000402.4:c.998T>C	NP_000393.4:p.Val333Ala
NM_001042351.2:c.908T>C	NP_001035810.1:p.Val303Ala
XM_005274657.2:c.1001T>C	XP_005274714.1:p.Val334Ala
XM_005274658.2:c.911T>C	XP_005274715.1:p.Val304Ala
XM_011531132.1:c.958-283T>C	XP_011529434.1:n.958-283T>C
NM_001360016.2:c.908T>C MANE Select	NP_001346945.1:p.Val303Ala
NM_001042351.3:c.908T>C	NP_001035810.1:p.Val303Ala