Canonical Allele Identifier: CA415233766

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760668G>A (hg19) ; chrX:g.154532453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532453G>A , CM000685.2:g.154532453G>A	GRCh38
NC_000023.10:g.153760668G>A , CM000685.1:g.153760668G>A	GRCh37
NC_000023.9:g.153413862G>A	NCBI36
NG_009015.2:g.20120C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1297C>T	ENSP00000377194.2:p.Leu433Phe
ENST00000439227.6:c.1300C>T	ENSP00000395599.2:p.Leu434Phe
ENST00000696420.1:c.1297C>T	ENSP00000512615.1:p.Leu433Phe
ENST00000696421.1:c.1297C>T	ENSP00000512616.1:p.Leu433Phe
ENST00000696422.1:c.1160C>T
ENST00000696423.1:c.1163C>T
ENST00000696424.1:c.1149C>T	ENSP00000512619.1:n.1149C>T
ENST00000696425.1:c.*210C>T	ENSP00000512620.1:n.*210C>T
ENST00000696426.1:c.*757C>T	ENSP00000512621.1:n.*757C>T
ENST00000696427.1:c.*257C>T	ENSP00000512622.1:n.*257C>T
ENST00000696428.1:c.*1139C>T	ENSP00000512623.1:n.*1139C>T
ENST00000696429.1:c.1297C>T	ENSP00000512624.1:p.Leu433Phe
ENST00000696430.1:c.1297C>T	ENSP00000512625.1:p.Leu433Phe
ENST00000393562.10:c.1297C>T MANE Select	ENSP00000377192.3:p.Leu433Phe
ENST00000369620.6:c.1435C>T	ENSP00000358633.2:p.Leu479Phe
ENST00000393562.6:c.1387C>T	ENSP00000377192.2:p.Leu463Phe
ENST00000393564.6:c.1297C>T	ENSP00000377194.2:p.Leu433Phe
ENST00000490651.1:n.518C>T
ENST00000621232.4:c.1297C>T	ENSP00000483686.1:p.Leu433Phe
NM_000402.4:c.1387C>T	NP_000393.4:p.Leu463Phe
NM_001042351.2:c.1297C>T	NP_001035810.1:p.Leu433Phe
XM_005274657.2:c.1390C>T	XP_005274714.1:p.Leu464Phe
XM_005274658.2:c.1300C>T	XP_005274715.1:p.Leu434Phe
NM_001360016.2:c.1297C>T MANE Select	NP_001346945.1:p.Leu433Phe
NM_001042351.3:c.1297C>T	NP_001035810.1:p.Leu433Phe