Canonical Allele Identifier: CA2824300279

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154531483G>C , CM000685.2:g.154531483G>C	GRCh38
NC_000023.10:g.153759698G>C , CM000685.1:g.153759698G>C	GRCh37
NC_000023.9:g.153412892G>C	NCBI36
NG_009015.2:g.21090C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.*517C>G	ENSP00000377194.2:n.*517C>G
ENST00000439227.6:c.*517C>G	ENSP00000395599.2:n.*517C>G
ENST00000696420.1:c.1457+705C>G	ENSP00000512615.1:n.1457+705C>G
ENST00000696421.1:c.1457+705C>G	ENSP00000512616.1:n.1457+705C>G
ENST00000696422.1:c.1928C>G
ENST00000696423.1:c.1931C>G
ENST00000696424.1:c.1917C>G	ENSP00000512619.1:n.1917C>G
ENST00000696425.1:c.*978C>G	ENSP00000512620.1:n.*978C>G
ENST00000696426.1:c.*1525C>G	ENSP00000512621.1:n.*1525C>G
ENST00000696427.1:c.*1025C>G	ENSP00000512622.1:n.*1025C>G
ENST00000696428.1:c.*1907C>G	ENSP00000512623.1:n.*1907C>G
ENST00000696429.1:c.*517C>G	ENSP00000512624.1:n.*517C>G
ENST00000696430.1:c.*517C>G	ENSP00000512625.1:n.*517C>G
ENST00000393562.10:c.*517C>G MANE Select	ENSP00000377192.3:n.*517C>G
ENST00000393562.6:c.*517C>G	ENSP00000377192.2:n.*517C>G
ENST00000621232.4:c.*517C>G	ENSP00000483686.1:n.*517C>G
NM_000402.4:c.*517C>G	NP_000393.4:n.*517C>G
NM_001042351.2:c.*517C>G	NP_001035810.1:n.*517C>G
XM_005274657.2:c.*517C>G	XP_005274714.1:n.*517C>G
XM_005274658.2:c.*517C>G	XP_005274715.1:n.*517C>G
NM_001360016.2:c.*517C>G MANE Select	NP_001346945.1:n.*517C>G
NM_001042351.3:c.*517C>G	NP_001035810.1:n.*517C>G