Canonical Allele Identifier: CA415235053

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761793T>G (hg19) ; chrX:g.154533578T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533578T>G , CM000685.2:g.154533578T>G	GRCh38
NC_000023.10:g.153761793T>G , CM000685.1:g.153761793T>G	GRCh37
NC_000023.9:g.153414987T>G	NCBI36
NG_009015.2:g.18995A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.862A>C	ENSP00000377194.2:p.Lys288Gln
ENST00000439227.6:c.865A>C	ENSP00000395599.2:p.Lys289Gln
ENST00000696420.1:c.862A>C	ENSP00000512615.1:p.Lys288Gln
ENST00000696421.1:c.862A>C	ENSP00000512616.1:p.Lys288Gln
ENST00000696422.1:c.725A>C
ENST00000696423.1:c.728A>C
ENST00000696424.1:c.714A>C	ENSP00000512619.1:p.Arg238Ser
ENST00000696425.1:c.862A>C	ENSP00000512620.1:p.Lys288Gln
ENST00000696426.1:c.862A>C	ENSP00000512621.1:p.Lys288Gln
ENST00000696427.1:c.862A>C	ENSP00000512622.1:p.Lys288Gln
ENST00000696428.1:c.*704A>C	ENSP00000512623.1:n.*704A>C
ENST00000696429.1:c.862A>C	ENSP00000512624.1:p.Lys288Gln
ENST00000696430.1:c.862A>C	ENSP00000512625.1:p.Lys288Gln
ENST00000393562.10:c.862A>C MANE Select	ENSP00000377192.3:p.Lys288Gln
ENST00000369620.6:c.1000A>C	ENSP00000358633.2:p.Lys334Gln
ENST00000393562.6:c.952A>C	ENSP00000377192.2:p.Lys318Gln
ENST00000393564.6:c.862A>C	ENSP00000377194.2:p.Lys288Gln
ENST00000439227.5:c.865A>C	ENSP00000395599.1:p.Lys289Gln
ENST00000440967.5:c.865A>C	ENSP00000400648.1:p.Lys289Gln
ENST00000489497.1:n.251A>C
ENST00000621232.4:c.862A>C	ENSP00000483686.1:p.Lys288Gln
NM_000402.4:c.952A>C	NP_000393.4:p.Lys318Gln
NM_001042351.2:c.862A>C	NP_001035810.1:p.Lys288Gln
XM_005274657.2:c.955A>C	XP_005274714.1:p.Lys319Gln
XM_005274658.2:c.865A>C	XP_005274715.1:p.Lys289Gln
XM_011531132.1:c.955A>C	XP_011529434.1:p.Lys319Gln
NM_001360016.2:c.862A>C MANE Select	NP_001346945.1:p.Lys288Gln
NM_001042351.3:c.862A>C	NP_001035810.1:p.Lys288Gln