Canonical Allele Identifier: CA415234460

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761213G>C (hg19) ; chrX:g.154532998G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532998G>C , CM000685.2:g.154532998G>C	GRCh38
NC_000023.10:g.153761213G>C , CM000685.1:g.153761213G>C	GRCh37
NC_000023.9:g.153414407G>C	NCBI36
NG_009015.2:g.19575C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.995C>G	ENSP00000377194.2:p.Ser332Cys
ENST00000439227.6:c.998C>G	ENSP00000395599.2:p.Ser333Cys
ENST00000696420.1:c.995C>G	ENSP00000512615.1:p.Ser332Cys
ENST00000696421.1:c.995C>G	ENSP00000512616.1:p.Ser332Cys
ENST00000696422.1:c.858C>G
ENST00000696423.1:c.861C>G
ENST00000696424.1:c.847C>G	ENSP00000512619.1:n.847C>G
ENST00000696425.1:c.865-196C>G	ENSP00000512620.1:n.865-196C>G
ENST00000696426.1:c.*455C>G	ENSP00000512621.1:n.*455C>G
ENST00000696427.1:c.1002C>G	ENSP00000512622.1:p.Val334=
ENST00000696428.1:c.*837C>G	ENSP00000512623.1:n.*837C>G
ENST00000696429.1:c.995C>G	ENSP00000512624.1:p.Ser332Cys
ENST00000696430.1:c.995C>G	ENSP00000512625.1:p.Ser332Cys
ENST00000393562.10:c.995C>G MANE Select	ENSP00000377192.3:p.Ser332Cys
ENST00000369620.6:c.1133C>G	ENSP00000358633.2:p.Ser378Cys
ENST00000393562.6:c.1085C>G	ENSP00000377192.2:p.Ser362Cys
ENST00000393564.6:c.995C>G	ENSP00000377194.2:p.Ser332Cys
ENST00000439227.5:c.998C>G	ENSP00000395599.1:p.Ser333Cys
ENST00000490651.1:n.77C>G
ENST00000621232.4:c.995C>G	ENSP00000483686.1:p.Ser332Cys
NM_000402.4:c.1085C>G	NP_000393.4:p.Ser362Cys
NM_001042351.2:c.995C>G	NP_001035810.1:p.Ser332Cys
XM_005274657.2:c.1088C>G	XP_005274714.1:p.Ser363Cys
XM_005274658.2:c.998C>G	XP_005274715.1:p.Ser333Cys
XM_011531132.1:c.958-196C>G	XP_011529434.1:n.958-196C>G
NM_001360016.2:c.995C>G MANE Select	NP_001346945.1:p.Ser332Cys
NM_001042351.3:c.995C>G	NP_001035810.1:p.Ser332Cys