Canonical Allele Identifier: CA415231954

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760261A>C (hg19) ; chrX:g.154532046A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532046A>C , CM000685.2:g.154532046A>C	GRCh38
NC_000023.10:g.153760261A>C , CM000685.1:g.153760261A>C	GRCh37
NC_000023.9:g.153413455A>C	NCBI36
NG_009015.2:g.20527T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1502T>G	ENSP00000377194.2:p.Phe501Cys
ENST00000439227.6:c.1505T>G	ENSP00000395599.2:p.Phe502Cys
ENST00000696420.1:c.1457+142T>G	ENSP00000512615.1:n.1457+142T>G
ENST00000696421.1:c.1457+142T>G	ENSP00000512616.1:n.1457+142T>G
ENST00000696422.1:c.1365T>G
ENST00000696423.1:c.1368T>G
ENST00000696424.1:c.1354T>G	ENSP00000512619.1:n.1354T>G
ENST00000696425.1:c.*415T>G	ENSP00000512620.1:n.*415T>G
ENST00000696426.1:c.*962T>G	ENSP00000512621.1:n.*962T>G
ENST00000696427.1:c.*462T>G	ENSP00000512622.1:n.*462T>G
ENST00000696428.1:c.*1344T>G	ENSP00000512623.1:n.*1344T>G
ENST00000696429.1:c.1502T>G	ENSP00000512624.1:p.Phe501Cys
ENST00000696430.1:c.1502T>G	ENSP00000512625.1:p.Phe501Cys
ENST00000393562.10:c.1502T>G MANE Select	ENSP00000377192.3:p.Phe501Cys
ENST00000369620.6:c.1640T>G	ENSP00000358633.2:p.Phe547Cys
ENST00000393562.6:c.1592T>G	ENSP00000377192.2:p.Phe531Cys
ENST00000393564.6:c.1502T>G	ENSP00000377194.2:p.Phe501Cys
ENST00000621232.4:c.1502T>G	ENSP00000483686.1:p.Phe501Cys
NM_000402.4:c.1592T>G	NP_000393.4:p.Phe531Cys
NM_001042351.2:c.1502T>G	NP_001035810.1:p.Phe501Cys
XM_005274657.2:c.1595T>G	XP_005274714.1:p.Phe532Cys
XM_005274658.2:c.1505T>G	XP_005274715.1:p.Phe502Cys
NM_001360016.2:c.1502T>G MANE Select	NP_001346945.1:p.Phe501Cys
NM_001042351.3:c.1502T>G	NP_001035810.1:p.Phe501Cys