Canonical Allele Identifier: CA519303274

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761179A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532964A>G , CM000685.2:g.154532964A>G	GRCh38
NC_000023.10:g.153761179A>G , CM000685.1:g.153761179A>G	GRCh37
NC_000023.9:g.153414373A>G	NCBI36
NG_009015.2:g.19609T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1029T>C	ENSP00000377194.2:p.Tyr343=
ENST00000439227.6:c.1032T>C	ENSP00000395599.2:p.Tyr344=
ENST00000696420.1:c.1029T>C	ENSP00000512615.1:p.Tyr343=
ENST00000696421.1:c.1029T>C	ENSP00000512616.1:p.Tyr343=
ENST00000696422.1:c.892T>C
ENST00000696423.1:c.895T>C
ENST00000696424.1:c.881T>C	ENSP00000512619.1:n.881T>C
ENST00000696425.1:c.865-162T>C	ENSP00000512620.1:n.865-162T>C
ENST00000696426.1:c.*489T>C	ENSP00000512621.1:n.*489T>C
ENST00000696427.1:c.1036T>C	ENSP00000512622.1:p.Cys346Arg
ENST00000696428.1:c.*871T>C	ENSP00000512623.1:n.*871T>C
ENST00000696429.1:c.1029T>C	ENSP00000512624.1:p.Tyr343=
ENST00000696430.1:c.1029T>C	ENSP00000512625.1:p.Tyr343=
ENST00000393562.10:c.1029T>C MANE Select	ENSP00000377192.3:p.Tyr343=
ENST00000369620.6:c.1167T>C	ENSP00000358633.2:p.Tyr389=
ENST00000393562.6:c.1119T>C	ENSP00000377192.2:p.Tyr373=
ENST00000393564.6:c.1029T>C	ENSP00000377194.2:p.Tyr343=
ENST00000490651.1:n.111T>C
ENST00000621232.4:c.1029T>C	ENSP00000483686.1:p.Tyr343=
NM_000402.4:c.1119T>C	NP_000393.4:p.Tyr373=
NM_001042351.2:c.1029T>C	NP_001035810.1:p.Tyr343=
XM_005274657.2:c.1122T>C	XP_005274714.1:p.Tyr374=
XM_005274658.2:c.1032T>C	XP_005274715.1:p.Tyr344=
XM_011531132.1:c.958-162T>C	XP_011529434.1:n.958-162T>C
NM_001360016.2:c.1029T>C MANE Select	NP_001346945.1:p.Tyr343=
NM_001042351.3:c.1029T>C	NP_001035810.1:p.Tyr343=