Canonical Allele Identifier: CA519303345

Gene: G6PD

Linked Data

• dbSNP Id: rs2070359016
• MyVariant Identifiers: chrX:g.153761200A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532985A>G , CM000685.2:g.154532985A>G	GRCh38
NC_000023.10:g.153761200A>G , CM000685.1:g.153761200A>G	GRCh37
NC_000023.9:g.153414394A>G	NCBI36
NG_009015.2:g.19588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1008T>C	ENSP00000377194.2:p.Thr336=
ENST00000439227.6:c.1011T>C	ENSP00000395599.2:p.Thr337=
ENST00000696420.1:c.1008T>C	ENSP00000512615.1:p.Thr336=
ENST00000696421.1:c.1008T>C	ENSP00000512616.1:p.Thr336=
ENST00000696422.1:c.871T>C
ENST00000696423.1:c.874T>C
ENST00000696424.1:c.860T>C	ENSP00000512619.1:n.860T>C
ENST00000696425.1:c.865-183T>C	ENSP00000512620.1:n.865-183T>C
ENST00000696426.1:c.*468T>C	ENSP00000512621.1:n.*468T>C
ENST00000696427.1:c.1015T>C	ENSP00000512622.1:p.Phe339Leu
ENST00000696428.1:c.*850T>C	ENSP00000512623.1:n.*850T>C
ENST00000696429.1:c.1008T>C	ENSP00000512624.1:p.Thr336=
ENST00000696430.1:c.1008T>C	ENSP00000512625.1:p.Thr336=
ENST00000393562.10:c.1008T>C MANE Select	ENSP00000377192.3:p.Thr336=
ENST00000369620.6:c.1146T>C	ENSP00000358633.2:p.Thr382=
ENST00000393562.6:c.1098T>C	ENSP00000377192.2:p.Thr366=
ENST00000393564.6:c.1008T>C	ENSP00000377194.2:p.Thr336=
ENST00000439227.5:c.1011T>C	ENSP00000395599.1:p.Thr337=
ENST00000490651.1:n.90T>C
ENST00000621232.4:c.1008T>C	ENSP00000483686.1:p.Thr336=
NM_000402.4:c.1098T>C	NP_000393.4:p.Thr366=
NM_001042351.2:c.1008T>C	NP_001035810.1:p.Thr336=
XM_005274657.2:c.1101T>C	XP_005274714.1:p.Thr367=
XM_005274658.2:c.1011T>C	XP_005274715.1:p.Thr337=
XM_011531132.1:c.958-183T>C	XP_011529434.1:n.958-183T>C
NM_001360016.2:c.1008T>C MANE Select	NP_001346945.1:p.Thr336=
NM_001042351.3:c.1008T>C	NP_001035810.1:p.Thr336=